SNP Links for Protein (Select 134133279) - SNP

Links from Protein

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Select item 14859018691.

rs1485901869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:230393422 (GRCh38)
2:231258137 (GRCh37)
Canonical SPDI:: NC_000002.12:230393421:T:G
Gene:: SP140L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.230393422T>G, NC_000002.11:g.231258137T>G, NM_138402.6:c.1116T>G, NM_138402.5:c.1116T>G, NM_138402.4:c.1116T>G, XM_011512190.4:c.1167T>G, XM_011512190.3:c.1167T>G, XM_011512190.2:c.1167T>G, XM_011512190.1:c.1167T>G, NM_001308162.3:c.1041T>G, NM_001308162.2:c.1041T>G, NM_001308162.1:c.1041T>G, NM_001308163.3:c.936T>G, NM_001308163.2:c.936T>G, NM_001308163.1:c.936T>G, NM_001352892.2:c.1116T>G, NM_001352892.1:c.1116T>G, NM_001352893.2:c.1011T>G, NM_001352893.1:c.1011T>G, NR_148198.2:n.1013T>G, NR_148198.1:n.1035T>G, XM_006712856.2:c.1011T>G, XM_006712856.1:c.1011T>G, NM_001352894.2:c.936T>G, NM_001352894.1:c.936T>G, XM_047446412.1:c.1167T>G, XM_047446413.1:c.1062T>G, XM_047446414.1:c.1041T>G, XM_047446415.1:c.987T>G, XM_047446416.1:c.987T>G, XM_047446417.1:c.1167T>G, XM_047446418.1:c.1167T>G, XM_047446419.1:c.1167T>G, XM_047446420.1:c.1167T>G

Select item 14858745882.

rs1485874588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230400201 (GRCh38)
2:231264916 (GRCh37)
Canonical SPDI:: NC_000002.12:230400200:C:T
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230400201C>T, NC_000002.11:g.231264916C>T, NM_138402.6:c.1272C>T, NM_138402.5:c.1272C>T, NM_138402.4:c.1272C>T, XM_011512190.4:c.1323C>T, XM_011512190.3:c.1323C>T, XM_011512190.2:c.1323C>T, XM_011512190.1:c.1323C>T, NM_001308162.3:c.1197C>T, NM_001308162.2:c.1197C>T, NM_001308162.1:c.1197C>T, NM_001308163.3:c.1092C>T, NM_001308163.2:c.1092C>T, NM_001308163.1:c.1092C>T, NM_001352892.2:c.1272C>T, NM_001352892.1:c.1272C>T, NM_001352893.2:c.1167C>T, NM_001352893.1:c.1167C>T, NR_148198.2:n.1169C>T, NR_148198.1:n.1191C>T, XM_006712856.2:c.1167C>T, XM_006712856.1:c.1167C>T, NM_001352894.2:c.1092C>T, NM_001352894.1:c.1092C>T, XR_001739922.2:n.113G>A, XR_001739922.1:n.134G>A, XR_001739924.2:n.126G>A, XR_001739924.1:n.113G>A, XR_001739921.2:n.113G>A, XR_001739921.1:n.113G>A, XM_047446412.1:c.1323C>T, XM_047446413.1:c.1218C>T, XM_047446414.1:c.1197C>T, XM_047446415.1:c.1143C>T, XM_047446416.1:c.1143C>T, XM_047446417.1:c.1323C>T, XM_047446418.1:c.1323C>T, XM_047446419.1:c.1323C>T, XM_047446420.1:c.1323C>T

Select item 14839381293.

rs1483938129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230388585 (GRCh38)
2:231253300 (GRCh37)
Canonical SPDI:: NC_000002.12:230388584:C:T
Gene:: SP140L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230388585C>T, NC_000002.11:g.231253300C>T, NM_138402.6:c.811C>T, NM_138402.5:c.811C>T, NM_138402.4:c.811C>T, XM_011512190.4:c.862C>T, XM_011512190.3:c.862C>T, XM_011512190.2:c.862C>T, XM_011512190.1:c.862C>T, NM_001308162.3:c.736C>T, NM_001308162.2:c.736C>T, NM_001308162.1:c.736C>T, NM_001308163.3:c.736C>T, NM_001308163.2:c.736C>T, NM_001308163.1:c.736C>T, XM_017005301.3:c.862C>T, XM_017005301.2:c.862C>T, XM_017005301.1:c.862C>T, NM_001352892.2:c.811C>T, NM_001352892.1:c.811C>T, NM_001352893.2:c.811C>T, NM_001352893.1:c.811C>T, NR_148198.2:n.813C>T, NR_148198.1:n.835C>T, XM_006712856.2:c.811C>T, XM_006712856.1:c.811C>T, NM_001352894.2:c.736C>T, NM_001352894.1:c.736C>T, XM_011512191.2:c.862C>T, XM_011512191.1:c.862C>T, XM_047446421.1:c.736C>T, XM_047446412.1:c.862C>T, XM_047446413.1:c.862C>T, XM_047446414.1:c.736C>T, XM_047446415.1:c.787C>T, XM_047446416.1:c.787C>T, XM_047446417.1:c.862C>T, XM_047446418.1:c.862C>T, XM_047446419.1:c.862C>T, XM_047446420.1:c.862C>T, NP_612411.4:p.His271Tyr, XP_011510492.1:p.His288Tyr, NP_001295091.1:p.His246Tyr, NP_001295092.1:p.His246Tyr, XP_016860790.1:p.His288Tyr, NP_001339821.1:p.His271Tyr, NP_001339822.1:p.His271Tyr, XP_006712919.1:p.His271Tyr, NP_001339823.1:p.His246Tyr, XP_011510493.1:p.His288Tyr, XP_047302377.1:p.His246Tyr, XP_047302368.1:p.His288Tyr, XP_047302369.1:p.His288Tyr, XP_047302370.1:p.His246Tyr, XP_047302371.1:p.His263Tyr, XP_047302372.1:p.His263Tyr, XP_047302373.1:p.His288Tyr, XP_047302374.1:p.His288Tyr, XP_047302375.1:p.His288Tyr, XP_047302376.1:p.His288Tyr

Select item 14809236654.

rs1480923665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:230357949 (GRCh38)
2:231222664 (GRCh37)
Canonical SPDI:: NC_000002.12:230357948:C:A
Gene:: SP140L (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.230357949C>A, NC_000002.11:g.231222664C>A, NM_138402.6:c.252C>A, NM_138402.5:c.252C>A, NM_138402.4:c.252C>A, XM_011512190.4:c.252C>A, XM_011512190.3:c.252C>A, XM_011512190.2:c.252C>A, XM_011512190.1:c.252C>A, NM_001308162.3:c.177C>A, NM_001308162.2:c.177C>A, NM_001308162.1:c.177C>A, NM_001308163.3:c.177C>A, NM_001308163.2:c.177C>A, NM_001308163.1:c.177C>A, XM_017005301.3:c.252C>A, XM_017005301.2:c.252C>A, XM_017005301.1:c.252C>A, NM_001352892.2:c.252C>A, NM_001352892.1:c.252C>A, NM_001352893.2:c.252C>A, NM_001352893.1:c.252C>A, NR_148198.2:n.254C>A, NR_148198.1:n.276C>A, XM_006712856.2:c.252C>A, XM_006712856.1:c.252C>A, NM_001352894.2:c.177C>A, NM_001352894.1:c.177C>A, XM_011512191.2:c.252C>A, XM_011512191.1:c.252C>A, XM_047446421.1:c.177C>A, XM_047446412.1:c.252C>A, XM_047446413.1:c.252C>A, XM_047446414.1:c.177C>A, XM_047446415.1:c.177C>A, XM_047446416.1:c.177C>A, XM_047446417.1:c.252C>A, XM_047446418.1:c.252C>A, XM_047446419.1:c.252C>A, XM_047446420.1:c.252C>A

Select item 14736948145.

rs1473694814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:230400213 (GRCh38)
2:231264928 (GRCh37)
Canonical SPDI:: NC_000002.12:230400212:C:A
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.230400213C>A, NC_000002.11:g.231264928C>A, NM_138402.6:c.1284C>A, NM_138402.5:c.1284C>A, NM_138402.4:c.1284C>A, XM_011512190.4:c.1335C>A, XM_011512190.3:c.1335C>A, XM_011512190.2:c.1335C>A, XM_011512190.1:c.1335C>A, NM_001308162.3:c.1209C>A, NM_001308162.2:c.1209C>A, NM_001308162.1:c.1209C>A, NM_001308163.3:c.1104C>A, NM_001308163.2:c.1104C>A, NM_001308163.1:c.1104C>A, NM_001352892.2:c.1284C>A, NM_001352892.1:c.1284C>A, NM_001352893.2:c.1179C>A, NM_001352893.1:c.1179C>A, NR_148198.2:n.1181C>A, NR_148198.1:n.1203C>A, XM_006712856.2:c.1179C>A, XM_006712856.1:c.1179C>A, NM_001352894.2:c.1104C>A, NM_001352894.1:c.1104C>A, XR_001739922.2:n.101G>T, XR_001739922.1:n.122G>T, XR_001739924.2:n.114G>T, XR_001739924.1:n.101G>T, XR_001739921.2:n.101G>T, XR_001739921.1:n.101G>T, XM_047446412.1:c.1335C>A, XM_047446413.1:c.1230C>A, XM_047446414.1:c.1209C>A, XM_047446415.1:c.1155C>A, XM_047446416.1:c.1155C>A, XM_047446417.1:c.1335C>A, XM_047446418.1:c.1335C>A, XM_047446419.1:c.1335C>A, XM_047446420.1:c.1335C>A, NP_612411.4:p.Asp428Glu, XP_011510492.1:p.Asp445Glu, NP_001295091.1:p.Asp403Glu, NP_001295092.1:p.Asp368Glu, NP_001339821.1:p.Asp428Glu, NP_001339822.1:p.Asp393Glu, XP_006712919.1:p.Asp393Glu, NP_001339823.1:p.Asp368Glu, XP_047302368.1:p.Asp445Glu, XP_047302369.1:p.Asp410Glu, XP_047302370.1:p.Asp403Glu, XP_047302371.1:p.Asp385Glu, XP_047302372.1:p.Asp385Glu, XP_047302373.1:p.Asp445Glu, XP_047302374.1:p.Asp445Glu, XP_047302375.1:p.Asp445Glu, XP_047302376.1:p.Asp445Glu

Select item 14734533216.

rs1473453321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:230383574 (GRCh38)
2:231248289 (GRCh37)
Canonical SPDI:: NC_000002.12:230383573:T:C
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230383574T>C, NC_000002.11:g.231248289T>C, NM_138402.6:c.702T>C, NM_138402.5:c.702T>C, NM_138402.4:c.702T>C, XM_011512190.4:c.753T>C, XM_011512190.3:c.753T>C, XM_011512190.2:c.753T>C, XM_011512190.1:c.753T>C, NM_001308162.3:c.627T>C, NM_001308162.2:c.627T>C, NM_001308162.1:c.627T>C, NM_001308163.3:c.627T>C, NM_001308163.2:c.627T>C, NM_001308163.1:c.627T>C, XM_017005301.3:c.753T>C, XM_017005301.2:c.753T>C, XM_017005301.1:c.753T>C, NM_001352892.2:c.702T>C, NM_001352892.1:c.702T>C, NM_001352893.2:c.702T>C, NM_001352893.1:c.702T>C, NR_148198.2:n.704T>C, NR_148198.1:n.726T>C, XM_006712856.2:c.702T>C, XM_006712856.1:c.702T>C, NM_001352894.2:c.627T>C, NM_001352894.1:c.627T>C, XM_011512191.2:c.753T>C, XM_011512191.1:c.753T>C, XM_047446421.1:c.627T>C, XM_047446412.1:c.753T>C, XM_047446413.1:c.753T>C, XM_047446414.1:c.627T>C, XM_047446415.1:c.678T>C, XM_047446416.1:c.678T>C, XM_047446417.1:c.753T>C, XM_047446418.1:c.753T>C, XM_047446419.1:c.753T>C, XM_047446420.1:c.753T>C

Select item 14731277787.

rs1473127778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230370956 (GRCh38)
2:231235671 (GRCh37)
Canonical SPDI:: NC_000002.12:230370955:G:A
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.230370956G>A, NC_000002.11:g.231235671G>A, NM_138402.6:c.572G>A, NM_138402.5:c.572G>A, NM_138402.4:c.572G>A, XM_011512190.4:c.623G>A, XM_011512190.3:c.623G>A, XM_011512190.2:c.623G>A, XM_011512190.1:c.623G>A, NM_001308162.3:c.497G>A, NM_001308162.2:c.497G>A, NM_001308162.1:c.497G>A, NM_001308163.3:c.497G>A, NM_001308163.2:c.497G>A, NM_001308163.1:c.497G>A, XM_017005301.3:c.623G>A, XM_017005301.2:c.623G>A, XM_017005301.1:c.623G>A, NM_001352892.2:c.572G>A, NM_001352892.1:c.572G>A, NM_001352893.2:c.572G>A, NM_001352893.1:c.572G>A, NR_148198.2:n.574G>A, NR_148198.1:n.596G>A, XM_006712856.2:c.572G>A, XM_006712856.1:c.572G>A, NM_001352894.2:c.497G>A, NM_001352894.1:c.497G>A, XM_011512191.2:c.623G>A, XM_011512191.1:c.623G>A, XM_047446421.1:c.497G>A, XM_047446412.1:c.623G>A, XM_047446413.1:c.623G>A, XM_047446414.1:c.497G>A, XM_047446415.1:c.548G>A, XM_047446416.1:c.548G>A, XM_047446417.1:c.623G>A, XM_047446418.1:c.623G>A, XM_047446419.1:c.623G>A, XM_047446420.1:c.623G>A, NP_612411.4:p.Cys191Tyr, XP_011510492.1:p.Cys208Tyr, NP_001295091.1:p.Cys166Tyr, NP_001295092.1:p.Cys166Tyr, XP_016860790.1:p.Cys208Tyr, NP_001339821.1:p.Cys191Tyr, NP_001339822.1:p.Cys191Tyr, XP_006712919.1:p.Cys191Tyr, NP_001339823.1:p.Cys166Tyr, XP_011510493.1:p.Cys208Tyr, XP_047302377.1:p.Cys166Tyr, XP_047302368.1:p.Cys208Tyr, XP_047302369.1:p.Cys208Tyr, XP_047302370.1:p.Cys166Tyr, XP_047302371.1:p.Cys183Tyr, XP_047302372.1:p.Cys183Tyr, XP_047302373.1:p.Cys208Tyr, XP_047302374.1:p.Cys208Tyr, XP_047302375.1:p.Cys208Tyr, XP_047302376.1:p.Cys208Tyr

Select item 14725782898.

rs1472578289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:230393446 (GRCh38)
2:231258161 (GRCh37)
Canonical SPDI:: NC_000002.12:230393445:T:A
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000002.12:g.230393446T>A, NC_000002.11:g.231258161T>A, NM_138402.6:c.1140T>A, NM_138402.5:c.1140T>A, NM_138402.4:c.1140T>A, XM_011512190.4:c.1191T>A, XM_011512190.3:c.1191T>A, XM_011512190.2:c.1191T>A, XM_011512190.1:c.1191T>A, NM_001308162.3:c.1065T>A, NM_001308162.2:c.1065T>A, NM_001308162.1:c.1065T>A, NM_001308163.3:c.960T>A, NM_001308163.2:c.960T>A, NM_001308163.1:c.960T>A, NM_001352892.2:c.1140T>A, NM_001352892.1:c.1140T>A, NM_001352893.2:c.1035T>A, NM_001352893.1:c.1035T>A, NR_148198.2:n.1037T>A, NR_148198.1:n.1059T>A, XM_006712856.2:c.1035T>A, XM_006712856.1:c.1035T>A, NM_001352894.2:c.960T>A, NM_001352894.1:c.960T>A, XM_047446412.1:c.1191T>A, XM_047446413.1:c.1086T>A, XM_047446414.1:c.1065T>A, XM_047446415.1:c.1011T>A, XM_047446416.1:c.1011T>A, XM_047446417.1:c.1191T>A, XM_047446418.1:c.1191T>A, XM_047446419.1:c.1191T>A, XM_047446420.1:c.1191T>A, NP_612411.4:p.Tyr380Ter, XP_011510492.1:p.Tyr397Ter, NP_001295091.1:p.Tyr355Ter, NP_001295092.1:p.Tyr320Ter, NP_001339821.1:p.Tyr380Ter, NP_001339822.1:p.Tyr345Ter, XP_006712919.1:p.Tyr345Ter, NP_001339823.1:p.Tyr320Ter, XP_047302368.1:p.Tyr397Ter, XP_047302369.1:p.Tyr362Ter, XP_047302370.1:p.Tyr355Ter, XP_047302371.1:p.Tyr337Ter, XP_047302372.1:p.Tyr337Ter, XP_047302373.1:p.Tyr397Ter, XP_047302374.1:p.Tyr397Ter, XP_047302375.1:p.Tyr397Ter, XP_047302376.1:p.Tyr397Ter

Select item 14724759429.

rs1472475942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:230388601 (GRCh38)
2:231253316 (GRCh37)
Canonical SPDI:: NC_000002.12:230388600:A:T
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.230388601A>T, NC_000002.11:g.231253316A>T, NM_138402.6:c.827A>T, NM_138402.5:c.827A>T, NM_138402.4:c.827A>T, XM_011512190.4:c.878A>T, XM_011512190.3:c.878A>T, XM_011512190.2:c.878A>T, XM_011512190.1:c.878A>T, NM_001308162.3:c.752A>T, NM_001308162.2:c.752A>T, NM_001308162.1:c.752A>T, NM_001308163.3:c.752A>T, NM_001308163.2:c.752A>T, NM_001308163.1:c.752A>T, XM_017005301.3:c.878A>T, XM_017005301.2:c.878A>T, XM_017005301.1:c.878A>T, NM_001352892.2:c.827A>T, NM_001352892.1:c.827A>T, NM_001352893.2:c.827A>T, NM_001352893.1:c.827A>T, NR_148198.2:n.829A>T, NR_148198.1:n.851A>T, XM_006712856.2:c.827A>T, XM_006712856.1:c.827A>T, NM_001352894.2:c.752A>T, NM_001352894.1:c.752A>T, XM_011512191.2:c.878A>T, XM_011512191.1:c.878A>T, XM_047446421.1:c.752A>T, XM_047446412.1:c.878A>T, XM_047446413.1:c.878A>T, XM_047446414.1:c.752A>T, XM_047446415.1:c.803A>T, XM_047446416.1:c.803A>T, XM_047446417.1:c.878A>T, XM_047446418.1:c.878A>T, XM_047446419.1:c.878A>T, XM_047446420.1:c.878A>T, NP_612411.4:p.Asp276Val, XP_011510492.1:p.Asp293Val, NP_001295091.1:p.Asp251Val, NP_001295092.1:p.Asp251Val, XP_016860790.1:p.Asp293Val, NP_001339821.1:p.Asp276Val, NP_001339822.1:p.Asp276Val, XP_006712919.1:p.Asp276Val, NP_001339823.1:p.Asp251Val, XP_011510493.1:p.Asp293Val, XP_047302377.1:p.Asp251Val, XP_047302368.1:p.Asp293Val, XP_047302369.1:p.Asp293Val, XP_047302370.1:p.Asp251Val, XP_047302371.1:p.Asp268Val, XP_047302372.1:p.Asp268Val, XP_047302373.1:p.Asp293Val, XP_047302374.1:p.Asp293Val, XP_047302375.1:p.Asp293Val, XP_047302376.1:p.Asp293Val

Select item 147087573910.

rs1470875739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:230402820 (GRCh38)
2:231267535 (GRCh37)
Canonical SPDI:: NC_000002.12:230402819:G:A,NC_000002.12:230402819:G:T
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.230402820G>A, NC_000002.12:g.230402820G>T, NC_000002.11:g.231267535G>A, NC_000002.11:g.231267535G>T, NM_138402.6:c.1667G>A, NM_138402.6:c.1667G>T, NM_138402.5:c.1667G>A, NM_138402.5:c.1667G>T, NM_138402.4:c.1667G>A, NM_138402.4:c.1667G>T, NM_001308162.3:c.1592G>A, NM_001308162.3:c.1592G>T, NM_001308162.2:c.1592G>A, NM_001308162.2:c.1592G>T, NM_001308162.1:c.1592G>A, NM_001308162.1:c.1592G>T, NM_001308163.3:c.1487G>A, NM_001308163.3:c.1487G>T, NM_001308163.2:c.1487G>A, NM_001308163.2:c.1487G>T, NM_001308163.1:c.1487G>A, NM_001308163.1:c.1487G>T, NM_001352892.2:c.1640G>A, NM_001352892.2:c.1640G>T, NM_001352892.1:c.1640G>A, NM_001352892.1:c.1640G>T, NM_001352893.2:c.1562G>A, NM_001352893.2:c.1562G>T, NM_001352893.1:c.1562G>A, NM_001352893.1:c.1562G>T, NR_148198.2:n.1617G>A, NR_148198.2:n.1617G>T, NR_148198.1:n.1639G>A, NR_148198.1:n.1639G>T, XM_006712856.2:c.1535G>A, XM_006712856.2:c.1535G>T, XM_006712856.1:c.1535G>A, XM_006712856.1:c.1535G>T, NM_001352894.2:c.1460G>A, NM_001352894.2:c.1460G>T, NM_001352894.1:c.1460G>A, NM_001352894.1:c.1460G>T, XM_047446412.1:c.1691G>A, XM_047446412.1:c.1691G>T, XM_047446413.1:c.1613G>A, XM_047446413.1:c.1613G>T, XM_047446414.1:c.1565G>A, XM_047446414.1:c.1565G>T, XM_047446415.1:c.1538G>A, XM_047446415.1:c.1538G>T, XM_047446416.1:c.1511G>A, XM_047446416.1:c.1511G>T, NP_612411.4:p.Gly556Glu, NP_612411.4:p.Gly556Val, NP_001295091.1:p.Gly531Glu, NP_001295091.1:p.Gly531Val, NP_001295092.1:p.Gly496Glu, NP_001295092.1:p.Gly496Val, NP_001339821.1:p.Gly547Glu, NP_001339821.1:p.Gly547Val, NP_001339822.1:p.Gly521Glu, NP_001339822.1:p.Gly521Val, XP_006712919.1:p.Gly512Glu, XP_006712919.1:p.Gly512Val, NP_001339823.1:p.Gly487Glu, NP_001339823.1:p.Gly487Val, XP_047302368.1:p.Gly564Glu, XP_047302368.1:p.Gly564Val, XP_047302369.1:p.Gly538Glu, XP_047302369.1:p.Gly538Val, XP_047302370.1:p.Gly522Glu, XP_047302370.1:p.Gly522Val, XP_047302371.1:p.Gly513Glu, XP_047302371.1:p.Gly513Val, XP_047302372.1:p.Gly504Glu, XP_047302372.1:p.Gly504Val

Select item 147007399411.

rs1470073994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:230385275 (GRCh38)
2:231249990 (GRCh37)
Canonical SPDI:: NC_000002.12:230385274:T:G
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.230385275T>G, NC_000002.11:g.231249990T>G, NM_138402.6:c.755T>G, NM_138402.5:c.755T>G, NM_138402.4:c.755T>G, XM_011512190.4:c.806T>G, XM_011512190.3:c.806T>G, XM_011512190.2:c.806T>G, XM_011512190.1:c.806T>G, NM_001308162.3:c.680T>G, NM_001308162.2:c.680T>G, NM_001308162.1:c.680T>G, NM_001308163.3:c.680T>G, NM_001308163.2:c.680T>G, NM_001308163.1:c.680T>G, XM_017005301.3:c.806T>G, XM_017005301.2:c.806T>G, XM_017005301.1:c.806T>G, NM_001352892.2:c.755T>G, NM_001352892.1:c.755T>G, NM_001352893.2:c.755T>G, NM_001352893.1:c.755T>G, NR_148198.2:n.757T>G, NR_148198.1:n.779T>G, XM_006712856.2:c.755T>G, XM_006712856.1:c.755T>G, NM_001352894.2:c.680T>G, NM_001352894.1:c.680T>G, XM_011512191.2:c.806T>G, XM_011512191.1:c.806T>G, XM_047446421.1:c.680T>G, XM_047446412.1:c.806T>G, XM_047446413.1:c.806T>G, XM_047446414.1:c.680T>G, XM_047446415.1:c.731T>G, XM_047446416.1:c.731T>G, XM_047446417.1:c.806T>G, XM_047446418.1:c.806T>G, XM_047446419.1:c.806T>G, XM_047446420.1:c.806T>G, NP_612411.4:p.Met252Arg, XP_011510492.1:p.Met269Arg, NP_001295091.1:p.Met227Arg, NP_001295092.1:p.Met227Arg, XP_016860790.1:p.Met269Arg, NP_001339821.1:p.Met252Arg, NP_001339822.1:p.Met252Arg, XP_006712919.1:p.Met252Arg, NP_001339823.1:p.Met227Arg, XP_011510493.1:p.Met269Arg, XP_047302377.1:p.Met227Arg, XP_047302368.1:p.Met269Arg, XP_047302369.1:p.Met269Arg, XP_047302370.1:p.Met227Arg, XP_047302371.1:p.Met244Arg, XP_047302372.1:p.Met244Arg, XP_047302373.1:p.Met269Arg, XP_047302374.1:p.Met269Arg, XP_047302375.1:p.Met269Arg, XP_047302376.1:p.Met269Arg

Select item 146982660312.

rs1469826603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230401752 (GRCh38)
2:231266467 (GRCh37)
Canonical SPDI:: NC_000002.12:230401751:A:G
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.230401752A>G, NC_000002.11:g.231266467A>G, NM_138402.6:c.1589A>G, NM_138402.5:c.1589A>G, NM_138402.4:c.1589A>G, NM_001308162.3:c.1514A>G, NM_001308162.2:c.1514A>G, NM_001308162.1:c.1514A>G, NM_001308163.3:c.1409A>G, NM_001308163.2:c.1409A>G, NM_001308163.1:c.1409A>G, NM_001352892.2:c.1562A>G, NM_001352892.1:c.1562A>G, NM_001352893.2:c.1484A>G, NM_001352893.1:c.1484A>G, NR_148198.2:n.1539A>G, NR_148198.1:n.1561A>G, XM_006712856.2:c.1457A>G, XM_006712856.1:c.1457A>G, NM_001352894.2:c.1382A>G, NM_001352894.1:c.1382A>G, XM_047446412.1:c.1613A>G, XM_047446413.1:c.1535A>G, XM_047446414.1:c.1487A>G, XM_047446415.1:c.1460A>G, XM_047446416.1:c.1433A>G, NP_612411.4:p.Glu530Gly, NP_001295091.1:p.Glu505Gly, NP_001295092.1:p.Glu470Gly, NP_001339821.1:p.Glu521Gly, NP_001339822.1:p.Glu495Gly, XP_006712919.1:p.Glu486Gly, NP_001339823.1:p.Glu461Gly, XP_047302368.1:p.Glu538Gly, XP_047302369.1:p.Glu512Gly, XP_047302370.1:p.Glu496Gly, XP_047302371.1:p.Glu487Gly, XP_047302372.1:p.Glu478Gly

Select item 146929149513.

rs1469291495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:230359050 (GRCh38)
2:231223765 (GRCh37)
Canonical SPDI:: NC_000002.12:230359049:G:C
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.230359050G>C, NC_000002.11:g.231223765G>C, NM_138402.6:c.357G>C, NM_138402.5:c.357G>C, NM_138402.4:c.357G>C, XM_011512190.4:c.357G>C, XM_011512190.3:c.357G>C, XM_011512190.2:c.357G>C, XM_011512190.1:c.357G>C, NM_001308162.3:c.282G>C, NM_001308162.2:c.282G>C, NM_001308162.1:c.282G>C, NM_001308163.3:c.282G>C, NM_001308163.2:c.282G>C, NM_001308163.1:c.282G>C, XM_017005301.3:c.357G>C, XM_017005301.2:c.357G>C, XM_017005301.1:c.357G>C, NM_001352892.2:c.357G>C, NM_001352892.1:c.357G>C, NM_001352893.2:c.357G>C, NM_001352893.1:c.357G>C, NR_148198.2:n.359G>C, NR_148198.1:n.381G>C, XM_006712856.2:c.357G>C, XM_006712856.1:c.357G>C, NM_001352894.2:c.282G>C, NM_001352894.1:c.282G>C, XM_011512191.2:c.357G>C, XM_011512191.1:c.357G>C, XM_047446421.1:c.282G>C, XM_047446412.1:c.357G>C, XM_047446413.1:c.357G>C, XM_047446414.1:c.282G>C, XM_047446415.1:c.282G>C, XM_047446416.1:c.282G>C, XM_047446417.1:c.357G>C, XM_047446418.1:c.357G>C, XM_047446419.1:c.357G>C, XM_047446420.1:c.357G>C

Select item 146776073214.

rs1467760732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:230392094 (GRCh38)
2:231256809 (GRCh37)
Canonical SPDI:: NC_000002.12:230392093:G:A,NC_000002.12:230392093:G:C
Gene:: SP140L (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.230392094G>A, NC_000002.12:g.230392094G>C, NC_000002.11:g.231256809G>A, NC_000002.11:g.231256809G>C, NM_138402.6:c.972G>A, NM_138402.6:c.972G>C, NM_138402.5:c.972G>A, NM_138402.5:c.972G>C, NM_138402.4:c.972G>A, NM_138402.4:c.972G>C, XM_011512190.4:c.1023G>A, XM_011512190.4:c.1023G>C, XM_011512190.3:c.1023G>A, XM_011512190.3:c.1023G>C, XM_011512190.2:c.1023G>A, XM_011512190.2:c.1023G>C, XM_011512190.1:c.1023G>A, XM_011512190.1:c.1023G>C, NM_001308162.3:c.897G>A, NM_001308162.3:c.897G>C, NM_001308162.2:c.897G>A, NM_001308162.2:c.897G>C, NM_001308162.1:c.897G>A, NM_001308162.1:c.897G>C, NM_001308163.3:c.792G>A, NM_001308163.3:c.792G>C, NM_001308163.2:c.792G>A, NM_001308163.2:c.792G>C, NM_001308163.1:c.792G>A, NM_001308163.1:c.792G>C, XM_017005301.3:c.*273G>A, XM_017005301.3:c.*273G>C, XM_017005301.2:c.*273G>A, XM_017005301.2:c.*273G>C, XM_017005301.1:c.*273G>A, XM_017005301.1:c.*273G>C, NM_001352892.2:c.972G>A, NM_001352892.2:c.972G>C, NM_001352892.1:c.972G>A, NM_001352892.1:c.972G>C, NM_001352893.2:c.867G>A, NM_001352893.2:c.867G>C, NM_001352893.1:c.867G>A, NM_001352893.1:c.867G>C, NR_148198.2:n.869G>A, NR_148198.2:n.869G>C, NR_148198.1:n.891G>A, NR_148198.1:n.891G>C, XM_006712856.2:c.867G>A, XM_006712856.2:c.867G>C, XM_006712856.1:c.867G>A, XM_006712856.1:c.867G>C, NM_001352894.2:c.792G>A, NM_001352894.2:c.792G>C, NM_001352894.1:c.792G>A, NM_001352894.1:c.792G>C, XM_011512191.2:c.*6G>A, XM_011512191.2:c.*6G>C, XM_011512191.1:c.*6G>A, XM_011512191.1:c.*6G>C, XM_047446412.1:c.1023G>A, XM_047446412.1:c.1023G>C, XM_047446413.1:c.918G>A, XM_047446413.1:c.918G>C, XM_047446414.1:c.897G>A, XM_047446414.1:c.897G>C, XM_047446415.1:c.843G>A, XM_047446415.1:c.843G>C, XM_047446416.1:c.843G>A, XM_047446416.1:c.843G>C, XM_047446417.1:c.1023G>A, XM_047446417.1:c.1023G>C, XM_047446418.1:c.1023G>A, XM_047446418.1:c.1023G>C, XM_047446419.1:c.1023G>A, XM_047446419.1:c.1023G>C, XM_047446420.1:c.1023G>A, XM_047446420.1:c.1023G>C, NP_612411.4:p.Leu324Phe, XP_011510492.1:p.Leu341Phe, NP_001295091.1:p.Leu299Phe, NP_001295092.1:p.Leu264Phe, NP_001339821.1:p.Leu324Phe, NP_001339822.1:p.Leu289Phe, XP_006712919.1:p.Leu289Phe, NP_001339823.1:p.Leu264Phe, XP_047302368.1:p.Leu341Phe, XP_047302369.1:p.Leu306Phe, XP_047302370.1:p.Leu299Phe, XP_047302371.1:p.Leu281Phe, XP_047302372.1:p.Leu281Phe, XP_047302373.1:p.Leu341Phe, XP_047302374.1:p.Leu341Phe, XP_047302375.1:p.Leu341Phe, XP_047302376.1:p.Leu341Phe

Select item 146404486615.

rs1464044866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230401063 (GRCh38)
2:231265778 (GRCh37)
Canonical SPDI:: NC_000002.12:230401062:G:A
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000028/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230401063G>A, NC_000002.11:g.231265778G>A, NM_138402.6:c.1422G>A, NM_138402.5:c.1422G>A, NM_138402.4:c.1422G>A, NM_001308162.3:c.1347G>A, NM_001308162.2:c.1347G>A, NM_001308162.1:c.1347G>A, NM_001308163.3:c.1242G>A, NM_001308163.2:c.1242G>A, NM_001308163.1:c.1242G>A, NM_001352892.2:c.1395G>A, NM_001352892.1:c.1395G>A, NM_001352893.2:c.1317G>A, NM_001352893.1:c.1317G>A, NR_148198.2:n.1372G>A, NR_148198.1:n.1394G>A, XM_006712856.2:c.1290G>A, XM_006712856.1:c.1290G>A, NM_001352894.2:c.1215G>A, NM_001352894.1:c.1215G>A, XM_047446412.1:c.1446G>A, XM_047446413.1:c.1368G>A, XM_047446414.1:c.1320G>A, XM_047446415.1:c.1293G>A, XM_047446416.1:c.1266G>A, XM_047446417.1:c.1473G>A

Select item 146292576616.

rs1462925766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230358993 (GRCh38)
2:231223708 (GRCh37)
Canonical SPDI:: NC_000002.12:230358992:C:T
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.230358993C>T, NC_000002.11:g.231223708C>T, NM_138402.6:c.300C>T, NM_138402.5:c.300C>T, NM_138402.4:c.300C>T, XM_011512190.4:c.300C>T, XM_011512190.3:c.300C>T, XM_011512190.2:c.300C>T, XM_011512190.1:c.300C>T, NM_001308162.3:c.225C>T, NM_001308162.2:c.225C>T, NM_001308162.1:c.225C>T, NM_001308163.3:c.225C>T, NM_001308163.2:c.225C>T, NM_001308163.1:c.225C>T, XM_017005301.3:c.300C>T, XM_017005301.2:c.300C>T, XM_017005301.1:c.300C>T, NM_001352892.2:c.300C>T, NM_001352892.1:c.300C>T, NM_001352893.2:c.300C>T, NM_001352893.1:c.300C>T, NR_148198.2:n.302C>T, NR_148198.1:n.324C>T, XM_006712856.2:c.300C>T, XM_006712856.1:c.300C>T, NM_001352894.2:c.225C>T, NM_001352894.1:c.225C>T, XM_011512191.2:c.300C>T, XM_011512191.1:c.300C>T, XM_047446421.1:c.225C>T, XM_047446412.1:c.300C>T, XM_047446413.1:c.300C>T, XM_047446414.1:c.225C>T, XM_047446415.1:c.225C>T, XM_047446416.1:c.225C>T, XM_047446417.1:c.300C>T, XM_047446418.1:c.300C>T, XM_047446419.1:c.300C>T, XM_047446420.1:c.300C>T

Select item 146022772817.

rs1460227728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:230357911 (GRCh38)
2:231222626 (GRCh37)
Canonical SPDI:: NC_000002.12:230357910:T:A
Gene:: SP140L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.230357911T>A, NC_000002.11:g.231222626T>A, NM_138402.6:c.214T>A, NM_138402.5:c.214T>A, NM_138402.4:c.214T>A, XM_011512190.4:c.214T>A, XM_011512190.3:c.214T>A, XM_011512190.2:c.214T>A, XM_011512190.1:c.214T>A, NM_001308162.3:c.139T>A, NM_001308162.2:c.139T>A, NM_001308162.1:c.139T>A, NM_001308163.3:c.139T>A, NM_001308163.2:c.139T>A, NM_001308163.1:c.139T>A, XM_017005301.3:c.214T>A, XM_017005301.2:c.214T>A, XM_017005301.1:c.214T>A, NM_001352892.2:c.214T>A, NM_001352892.1:c.214T>A, NM_001352893.2:c.214T>A, NM_001352893.1:c.214T>A, NR_148198.2:n.216T>A, NR_148198.1:n.238T>A, XM_006712856.2:c.214T>A, XM_006712856.1:c.214T>A, NM_001352894.2:c.139T>A, NM_001352894.1:c.139T>A, XM_011512191.2:c.214T>A, XM_011512191.1:c.214T>A, XM_047446421.1:c.139T>A, XM_047446412.1:c.214T>A, XM_047446413.1:c.214T>A, XM_047446414.1:c.139T>A, XM_047446415.1:c.139T>A, XM_047446416.1:c.139T>A, XM_047446417.1:c.214T>A, XM_047446418.1:c.214T>A, XM_047446419.1:c.214T>A, XM_047446420.1:c.214T>A, NP_612411.4:p.Phe72Ile, XP_011510492.1:p.Phe72Ile, NP_001295091.1:p.Phe47Ile, NP_001295092.1:p.Phe47Ile, XP_016860790.1:p.Phe72Ile, NP_001339821.1:p.Phe72Ile, NP_001339822.1:p.Phe72Ile, XP_006712919.1:p.Phe72Ile, NP_001339823.1:p.Phe47Ile, XP_011510493.1:p.Phe72Ile, XP_047302377.1:p.Phe47Ile, XP_047302368.1:p.Phe72Ile, XP_047302369.1:p.Phe72Ile, XP_047302370.1:p.Phe47Ile, XP_047302371.1:p.Phe47Ile, XP_047302372.1:p.Phe47Ile, XP_047302373.1:p.Phe72Ile, XP_047302374.1:p.Phe72Ile, XP_047302375.1:p.Phe72Ile, XP_047302376.1:p.Phe72Ile

Select item 145997238318.

rs1459972383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:230401005 (GRCh38)
2:231265720 (GRCh37)
Canonical SPDI:: NC_000002.12:230401004:A:C
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230401005A>C, NC_000002.11:g.231265720A>C, NM_138402.6:c.1364A>C, NM_138402.5:c.1364A>C, NM_138402.4:c.1364A>C, XM_011512190.4:c.*58A>C, XM_011512190.3:c.*58A>C, XM_011512190.2:c.*58A>C, XM_011512190.1:c.*58A>C, NM_001308162.3:c.1289A>C, NM_001308162.2:c.1289A>C, NM_001308162.1:c.1289A>C, NM_001308163.3:c.1184A>C, NM_001308163.2:c.1184A>C, NM_001308163.1:c.1184A>C, NM_001352892.2:c.1337A>C, NM_001352892.1:c.1337A>C, NM_001352893.2:c.1259A>C, NM_001352893.1:c.1259A>C, NR_148198.2:n.1314A>C, NR_148198.1:n.1336A>C, XM_006712856.2:c.1232A>C, XM_006712856.1:c.1232A>C, NM_001352894.2:c.1157A>C, NM_001352894.1:c.1157A>C, XR_001739922.2:n.19T>G, XR_001739922.1:n.40T>G, XR_001739924.2:n.32T>G, XR_001739924.1:n.19T>G, XR_001739921.2:n.19T>G, XR_001739921.1:n.19T>G, XM_047446412.1:c.1388A>C, XM_047446413.1:c.1310A>C, XM_047446414.1:c.1262A>C, XM_047446415.1:c.1235A>C, XM_047446416.1:c.1208A>C, XM_047446417.1:c.1415A>C, XM_047446418.1:c.*85A>C, NP_612411.4:p.Gln455Pro, NP_001295091.1:p.Gln430Pro, NP_001295092.1:p.Gln395Pro, NP_001339821.1:p.Gln446Pro, NP_001339822.1:p.Gln420Pro, XP_006712919.1:p.Gln411Pro, NP_001339823.1:p.Gln386Pro, XP_047302368.1:p.Gln463Pro, XP_047302369.1:p.Gln437Pro, XP_047302370.1:p.Gln421Pro, XP_047302371.1:p.Gln412Pro, XP_047302372.1:p.Gln403Pro, XP_047302373.1:p.Gln472Pro

Select item 145987685219.

rs1459876852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230400958 (GRCh38)
2:231265673 (GRCh37)
Canonical SPDI:: NC_000002.12:230400957:C:T
Gene:: SP140L (Varview), LOC105373925 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230400958C>T, NC_000002.11:g.231265673C>T, NM_138402.6:c.1317C>T, NM_138402.5:c.1317C>T, NM_138402.4:c.1317C>T, NM_001308162.3:c.1242C>T, NM_001308162.2:c.1242C>T, NM_001308162.1:c.1242C>T, NM_001308163.3:c.1137C>T, NM_001308163.2:c.1137C>T, NM_001308163.1:c.1137C>T, NM_001352893.2:c.1212C>T, NM_001352893.1:c.1212C>T, XR_001739922.2:n.66G>A, XR_001739922.1:n.87G>A, XR_001739924.2:n.79G>A, XR_001739924.1:n.66G>A, XR_001739921.2:n.66G>A, XR_001739921.1:n.66G>A, XM_047446413.1:c.1263C>T, XM_047446415.1:c.1188C>T, XM_047446417.1:c.1368C>T, XM_047446418.1:c.*38C>T

Select item 145826373120.

rs1458263731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:230388608 (GRCh38)
2:231253323 (GRCh37)
Canonical SPDI:: NC_000002.12:230388607:T:C
Gene:: SP140L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230388608T>C, NC_000002.11:g.231253323T>C, NM_138402.6:c.834T>C, NM_138402.5:c.834T>C, NM_138402.4:c.834T>C, XM_011512190.4:c.885T>C, XM_011512190.3:c.885T>C, XM_011512190.2:c.885T>C, XM_011512190.1:c.885T>C, NM_001308162.3:c.759T>C, NM_001308162.2:c.759T>C, NM_001308162.1:c.759T>C, NM_001308163.3:c.759T>C, NM_001308163.2:c.759T>C, NM_001308163.1:c.759T>C, XM_017005301.3:c.885T>C, XM_017005301.2:c.885T>C, XM_017005301.1:c.885T>C, NM_001352892.2:c.834T>C, NM_001352892.1:c.834T>C, NM_001352893.2:c.834T>C, NM_001352893.1:c.834T>C, NR_148198.2:n.836T>C, NR_148198.1:n.858T>C, XM_006712856.2:c.834T>C, XM_006712856.1:c.834T>C, NM_001352894.2:c.759T>C, NM_001352894.1:c.759T>C, XM_011512191.2:c.885T>C, XM_011512191.1:c.885T>C, XM_047446421.1:c.759T>C, XM_047446412.1:c.885T>C, XM_047446413.1:c.885T>C, XM_047446414.1:c.759T>C, XM_047446415.1:c.810T>C, XM_047446416.1:c.810T>C, XM_047446417.1:c.885T>C, XM_047446418.1:c.885T>C, XM_047446419.1:c.885T>C, XM_047446420.1:c.885T>C

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