SNP Links for Protein (Select 531990794) - SNP

Links from Protein

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Select item 14717604561.

rs1471760456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48481703 (GRCh38)
X:48340091 (GRCh37)
Canonical SPDI:: NC_000023.11:48481702:G:A
Gene:: FTSJ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48481703G>A, NC_000023.10:g.48340091G>A, NG_008879.1:g.10543G>A, NM_012280.4:c.643G>A, NM_012280.3:c.643G>A, NM_012280.2:c.643G>A, NM_177439.3:c.643G>A, NM_177439.2:c.643G>A, NM_177439.1:c.643G>A, NM_001282157.1:c.232G>A, NW_004070880.2:g.721132G>A, XR_949015.3:n.928G>A, XR_949015.2:n.957G>A, XR_949015.1:n.1061G>A, XR_949016.3:n.928G>A, XR_949016.2:n.957G>A, XR_949016.1:n.1061G>A, XM_005272595.3:c.643G>A, XM_005272595.2:c.643G>A, XM_005272595.1:c.643G>A, XM_024452359.2:c.643G>A, XM_024452359.1:c.643G>A, XR_007068186.1:n.928G>A, NM_177434.1:c.643G>A, XM_047441943.1:c.643G>A, XM_047441945.1:c.643G>A, XM_047441942.1:c.643G>A, XM_047441944.1:c.643G>A, NP_036412.1:p.Asp215Asn, NP_803188.1:p.Asp215Asn, NP_001269086.1:p.Asp78Asn, XP_005272652.1:p.Asp215Asn, XP_024308127.1:p.Asp215Asn, XP_047297899.1:p.Asp215Asn, XP_047297901.1:p.Asp215Asn, XP_047297898.1:p.Asp215Asn, XP_047297900.1:p.Asp215Asn

Select item 14399187962.

rs1439918796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48481458 (GRCh38)
X:48339846 (GRCh37)
Canonical SPDI:: NC_000023.11:48481457:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48481458C>T, NC_000023.10:g.48339846C>T, NG_008879.1:g.10298C>T, NM_012280.4:c.501C>T, NM_012280.3:c.501C>T, NM_012280.2:c.501C>T, NM_177439.3:c.501C>T, NM_177439.2:c.501C>T, NM_177439.1:c.501C>T, NM_001282157.1:c.90C>T, NW_004070880.2:g.720887C>T, XR_949015.3:n.786C>T, XR_949015.2:n.815C>T, XR_949015.1:n.919C>T, XR_949016.3:n.786C>T, XR_949016.2:n.815C>T, XR_949016.1:n.919C>T, XM_005272595.3:c.501C>T, XM_005272595.2:c.501C>T, XM_005272595.1:c.501C>T, XM_024452359.2:c.501C>T, XM_024452359.1:c.501C>T, XR_007068186.1:n.786C>T, NM_177434.1:c.501C>T, XM_047441943.1:c.501C>T, XM_047441945.1:c.501C>T, XM_047441942.1:c.501C>T, XM_047441944.1:c.501C>T

Select item 14248910693.

rs1424891069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48482649 (GRCh38)
X:48341037 (GRCh37)
Canonical SPDI:: NC_000023.11:48482648:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48482649C>T, NC_000023.10:g.48341037C>T, NG_008879.1:g.11489C>T, NM_012280.4:c.812C>T, NM_012280.3:c.812C>T, NM_012280.2:c.812C>T, NM_177439.3:c.806C>T, NM_177439.2:c.806C>T, NM_177439.1:c.806C>T, NM_001282157.1:c.401C>T, NW_004070880.2:g.722078C>T, XR_949015.3:n.1097C>T, XR_949015.2:n.1126C>T, XR_949015.1:n.1230C>T, XR_949016.3:n.1097C>T, XR_949016.2:n.1126C>T, XR_949016.1:n.1230C>T, XM_005272595.3:c.806C>T, XM_005272595.2:c.806C>T, XM_005272595.1:c.806C>T, XM_024452359.2:c.812C>T, XM_024452359.1:c.812C>T, XR_007068186.1:n.1091C>T, NM_177434.1:c.806C>T, XM_047441943.1:c.812C>T, XM_047441945.1:c.806C>T, XM_047441942.1:c.812C>T, XM_047441944.1:c.806C>T, NP_036412.1:p.Ser271Leu, NP_803188.1:p.Ser269Leu, NP_001269086.1:p.Ser134Leu, XP_005272652.1:p.Ser269Leu, XP_024308127.1:p.Ser271Leu, XP_047297899.1:p.Ser271Leu, XP_047297901.1:p.Ser269Leu, XP_047297898.1:p.Ser271Leu, XP_047297900.1:p.Ser269Leu

Select item 14234769704.

rs1423476970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48481449 (GRCh38)
X:48339837 (GRCh37)
Canonical SPDI:: NC_000023.11:48481448:G:A
Gene:: FTSJ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48481449G>A, NC_000023.10:g.48339837G>A, NG_008879.1:g.10289G>A, NM_012280.4:c.492G>A, NM_012280.3:c.492G>A, NM_012280.2:c.492G>A, NM_177439.3:c.492G>A, NM_177439.2:c.492G>A, NM_177439.1:c.492G>A, NM_001282157.1:c.81G>A, NW_004070880.2:g.720878G>A, XR_949015.3:n.777G>A, XR_949015.2:n.806G>A, XR_949015.1:n.910G>A, XR_949016.3:n.777G>A, XR_949016.2:n.806G>A, XR_949016.1:n.910G>A, XM_005272595.3:c.492G>A, XM_005272595.2:c.492G>A, XM_005272595.1:c.492G>A, XM_024452359.2:c.492G>A, XM_024452359.1:c.492G>A, XR_007068186.1:n.777G>A, NM_177434.1:c.492G>A, XM_047441943.1:c.492G>A, XM_047441945.1:c.492G>A, XM_047441942.1:c.492G>A, XM_047441944.1:c.492G>A

Select item 14139623825.

rs1413962382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:48482761 (GRCh38)
X:48341149 (GRCh37)
Canonical SPDI:: NC_000023.11:48482760:C:A,NC_000023.11:48482760:C:G,NC_000023.11:48482760:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.48482761C>A, NC_000023.11:g.48482761C>G, NC_000023.11:g.48482761C>T, NC_000023.10:g.48341149C>A, NC_000023.10:g.48341149C>G, NC_000023.10:g.48341149C>T, NG_008879.1:g.11601C>A, NG_008879.1:g.11601C>G, NG_008879.1:g.11601C>T, NM_012280.4:c.924C>A, NM_012280.4:c.924C>G, NM_012280.4:c.924C>T, NM_012280.3:c.924C>A, NM_012280.3:c.924C>G, NM_012280.3:c.924C>T, NM_012280.2:c.924C>A, NM_012280.2:c.924C>G, NM_012280.2:c.924C>T, NM_177439.3:c.918C>A, NM_177439.3:c.918C>G, NM_177439.3:c.918C>T, NM_177439.2:c.918C>A, NM_177439.2:c.918C>G, NM_177439.2:c.918C>T, NM_177439.1:c.918C>A, NM_177439.1:c.918C>G, NM_177439.1:c.918C>T, NM_001282157.1:c.513C>A, NM_001282157.1:c.513C>G, NM_001282157.1:c.513C>T, NW_004070880.2:g.722190C>A, NW_004070880.2:g.722190C>G, NW_004070880.2:g.722190C>T, XR_949015.3:n.1209C>A, XR_949015.3:n.1209C>G, XR_949015.3:n.1209C>T, XR_949015.2:n.1238C>A, XR_949015.2:n.1238C>G, XR_949015.2:n.1238C>T, XR_949015.1:n.1342C>A, XR_949015.1:n.1342C>G, XR_949015.1:n.1342C>T, XR_949016.3:n.1209C>A, XR_949016.3:n.1209C>G, XR_949016.3:n.1209C>T, XR_949016.2:n.1238C>A, XR_949016.2:n.1238C>G, XR_949016.2:n.1238C>T, XR_949016.1:n.1342C>A, XR_949016.1:n.1342C>G, XR_949016.1:n.1342C>T, XM_005272595.3:c.918C>A, XM_005272595.3:c.918C>G, XM_005272595.3:c.918C>T, XM_005272595.2:c.918C>A, XM_005272595.2:c.918C>G, XM_005272595.2:c.918C>T, XM_005272595.1:c.918C>A, XM_005272595.1:c.918C>G, XM_005272595.1:c.918C>T, XM_024452359.2:c.924C>A, XM_024452359.2:c.924C>G, XM_024452359.2:c.924C>T, XM_024452359.1:c.924C>A, XM_024452359.1:c.924C>G, XM_024452359.1:c.924C>T, XR_007068186.1:n.1203C>A, XR_007068186.1:n.1203C>G, XR_007068186.1:n.1203C>T, NM_177434.1:c.918C>A, NM_177434.1:c.918C>G, NM_177434.1:c.918C>T, XM_047441943.1:c.924C>A, XM_047441943.1:c.924C>G, XM_047441943.1:c.924C>T, XM_047441945.1:c.918C>A, XM_047441945.1:c.918C>G, XM_047441945.1:c.918C>T, XM_047441942.1:c.924C>A, XM_047441942.1:c.924C>G, XM_047441942.1:c.924C>T, XM_047441944.1:c.918C>A, XM_047441944.1:c.918C>G, XM_047441944.1:c.918C>T

Select item 14138404746.

rs1413840474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48481675 (GRCh38)
X:48340063 (GRCh37)
Canonical SPDI:: NC_000023.11:48481674:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48481675C>T, NC_000023.10:g.48340063C>T, NG_008879.1:g.10515C>T, NM_012280.4:c.615C>T, NM_012280.3:c.615C>T, NM_012280.2:c.615C>T, NM_177439.3:c.615C>T, NM_177439.2:c.615C>T, NM_177439.1:c.615C>T, NM_001282157.1:c.204C>T, NW_004070880.2:g.721104C>T, XR_949015.3:n.900C>T, XR_949015.2:n.929C>T, XR_949015.1:n.1033C>T, XR_949016.3:n.900C>T, XR_949016.2:n.929C>T, XR_949016.1:n.1033C>T, XM_005272595.3:c.615C>T, XM_005272595.2:c.615C>T, XM_005272595.1:c.615C>T, XM_024452359.2:c.615C>T, XM_024452359.1:c.615C>T, XR_007068186.1:n.900C>T, NM_177434.1:c.615C>T, XM_047441943.1:c.615C>T, XM_047441945.1:c.615C>T, XM_047441942.1:c.615C>T, XM_047441944.1:c.615C>T

Select item 13421974967.

rs1342197496 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:48482753 (GRCh38)
X:48341141 (GRCh37)
Canonical SPDI:: NC_000023.11:48482752:CCCC:CCC
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000023.11:g.48482756del, NC_000023.10:g.48341144del, NG_008879.1:g.11596del, NM_012280.4:c.919del, NM_012280.3:c.919del, NM_012280.2:c.919del, NM_177439.3:c.913del, NM_177439.2:c.913del, NM_177439.1:c.913del, NM_001282157.1:c.508del, NW_004070880.2:g.722185del, XR_949015.3:n.1204del, XR_949015.2:n.1233del, XR_949015.1:n.1337del, XR_949016.3:n.1204del, XR_949016.2:n.1233del, XR_949016.1:n.1337del, XM_005272595.3:c.913del, XM_005272595.2:c.913del, XM_005272595.1:c.913del, XM_024452359.2:c.919del, XM_024452359.1:c.919del, XR_007068186.1:n.1198del, NM_177434.1:c.913del, XM_047441943.1:c.919del, XM_047441945.1:c.913del, XM_047441942.1:c.919del, XM_047441944.1:c.913del, NP_036412.1:p.Leu307fs, NP_803188.1:p.Leu305fs, NP_001269086.1:p.Leu170fs, XP_005272652.1:p.Leu305fs, XP_024308127.1:p.Leu307fs, XP_047297899.1:p.Leu307fs, XP_047297901.1:p.Leu305fs, XP_047297898.1:p.Leu307fs, XP_047297900.1:p.Leu305fs

Select item 13353972288.

rs1335397228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48481439 (GRCh38)
X:48339827 (GRCh37)
Canonical SPDI:: NC_000023.11:48481438:G:A
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48481439G>A, NC_000023.10:g.48339827G>A, NG_008879.1:g.10279G>A, NM_012280.4:c.482G>A, NM_012280.3:c.482G>A, NM_012280.2:c.482G>A, NM_177439.3:c.482G>A, NM_177439.2:c.482G>A, NM_177439.1:c.482G>A, NM_001282157.1:c.71G>A, NW_004070880.2:g.720868G>A, XR_949015.3:n.767G>A, XR_949015.2:n.796G>A, XR_949015.1:n.900G>A, XR_949016.3:n.767G>A, XR_949016.2:n.796G>A, XR_949016.1:n.900G>A, XM_005272595.3:c.482G>A, XM_005272595.2:c.482G>A, XM_005272595.1:c.482G>A, XM_024452359.2:c.482G>A, XM_024452359.1:c.482G>A, XR_007068186.1:n.767G>A, NM_177434.1:c.482G>A, XM_047441943.1:c.482G>A, XM_047441945.1:c.482G>A, XM_047441942.1:c.482G>A, XM_047441944.1:c.482G>A, NP_036412.1:p.Arg161Gln, NP_803188.1:p.Arg161Gln, NP_001269086.1:p.Arg24Gln, XP_005272652.1:p.Arg161Gln, XP_024308127.1:p.Arg161Gln, XP_047297899.1:p.Arg161Gln, XP_047297901.1:p.Arg161Gln, XP_047297898.1:p.Arg161Gln, XP_047297900.1:p.Arg161Gln

Select item 13334304519.

rs1333430451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48482493 (GRCh38)
X:48340881 (GRCh37)
Canonical SPDI:: NC_000023.11:48482492:G:A
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48482493G>A, NC_000023.10:g.48340881G>A, NG_008879.1:g.11333G>A, NM_012280.4:c.746G>A, NM_012280.3:c.746G>A, NM_012280.2:c.746G>A, NM_177439.3:c.740G>A, NM_177439.2:c.740G>A, NM_177439.1:c.740G>A, NM_001282157.1:c.335G>A, NW_004070880.2:g.721922G>A, XR_949015.3:n.1031G>A, XR_949015.2:n.1060G>A, XR_949015.1:n.1164G>A, XR_949016.3:n.1031G>A, XR_949016.2:n.1060G>A, XR_949016.1:n.1164G>A, XM_005272595.3:c.740G>A, XM_005272595.2:c.740G>A, XM_005272595.1:c.740G>A, XM_024452359.2:c.746G>A, XM_024452359.1:c.746G>A, XR_007068186.1:n.1025G>A, NM_177434.1:c.740G>A, XM_047441943.1:c.746G>A, XM_047441945.1:c.740G>A, XM_047441942.1:c.746G>A, XM_047441944.1:c.740G>A, NP_036412.1:p.Ser249Asn, NP_803188.1:p.Ser247Asn, NP_001269086.1:p.Ser112Asn, XP_005272652.1:p.Ser247Asn, XP_024308127.1:p.Ser249Asn, XP_047297899.1:p.Ser249Asn, XP_047297901.1:p.Ser247Asn, XP_047297898.1:p.Ser249Asn, XP_047297900.1:p.Ser247Asn

Select item 129131412610.

rs1291314126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48482758 (GRCh38)
X:48341146 (GRCh37)
Canonical SPDI:: NC_000023.11:48482757:G:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48482758G>T, NC_000023.10:g.48341146G>T, NG_008879.1:g.11598G>T, NM_012280.4:c.921G>T, NM_012280.3:c.921G>T, NM_012280.2:c.921G>T, NM_177439.3:c.915G>T, NM_177439.2:c.915G>T, NM_177439.1:c.915G>T, NM_001282157.1:c.510G>T, NW_004070880.2:g.722187G>T, XR_949015.3:n.1206G>T, XR_949015.2:n.1235G>T, XR_949015.1:n.1339G>T, XR_949016.3:n.1206G>T, XR_949016.2:n.1235G>T, XR_949016.1:n.1339G>T, XM_005272595.3:c.915G>T, XM_005272595.2:c.915G>T, XM_005272595.1:c.915G>T, XM_024452359.2:c.921G>T, XM_024452359.1:c.921G>T, XR_007068186.1:n.1200G>T, NM_177434.1:c.915G>T, XM_047441943.1:c.921G>T, XM_047441945.1:c.915G>T, XM_047441942.1:c.921G>T, XM_047441944.1:c.915G>T

Select item 125664218711.

rs1256642187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:48481704 (GRCh38)
X:48340092 (GRCh37)
Canonical SPDI:: NC_000023.11:48481703:A:C,NC_000023.11:48481703:A:G
Gene:: FTSJ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48481704A>C, NC_000023.11:g.48481704A>G, NC_000023.10:g.48340092A>C, NC_000023.10:g.48340092A>G, NG_008879.1:g.10544A>C, NG_008879.1:g.10544A>G, NM_012280.4:c.644A>C, NM_012280.4:c.644A>G, NM_012280.3:c.644A>C, NM_012280.3:c.644A>G, NM_012280.2:c.644A>C, NM_012280.2:c.644A>G, NM_177439.3:c.644A>C, NM_177439.3:c.644A>G, NM_177439.2:c.644A>C, NM_177439.2:c.644A>G, NM_177439.1:c.644A>C, NM_177439.1:c.644A>G, NM_001282157.1:c.233A>C, NM_001282157.1:c.233A>G, NW_004070880.2:g.721133A>C, NW_004070880.2:g.721133A>G, XR_949015.3:n.929A>C, XR_949015.3:n.929A>G, XR_949015.2:n.958A>C, XR_949015.2:n.958A>G, XR_949015.1:n.1062A>C, XR_949015.1:n.1062A>G, XR_949016.3:n.929A>C, XR_949016.3:n.929A>G, XR_949016.2:n.958A>C, XR_949016.2:n.958A>G, XR_949016.1:n.1062A>C, XR_949016.1:n.1062A>G, XM_005272595.3:c.644A>C, XM_005272595.3:c.644A>G, XM_005272595.2:c.644A>C, XM_005272595.2:c.644A>G, XM_005272595.1:c.644A>C, XM_005272595.1:c.644A>G, XM_024452359.2:c.644A>C, XM_024452359.2:c.644A>G, XM_024452359.1:c.644A>C, XM_024452359.1:c.644A>G, XR_007068186.1:n.929A>C, XR_007068186.1:n.929A>G, NM_177434.1:c.644A>C, NM_177434.1:c.644A>G, XM_047441943.1:c.644A>C, XM_047441943.1:c.644A>G, XM_047441945.1:c.644A>C, XM_047441945.1:c.644A>G, XM_047441942.1:c.644A>C, XM_047441942.1:c.644A>G, XM_047441944.1:c.644A>C, XM_047441944.1:c.644A>G, NP_036412.1:p.Asp215Ala, NP_036412.1:p.Asp215Gly, NP_803188.1:p.Asp215Ala, NP_803188.1:p.Asp215Gly, NP_001269086.1:p.Asp78Ala, NP_001269086.1:p.Asp78Gly, XP_005272652.1:p.Asp215Ala, XP_005272652.1:p.Asp215Gly, XP_024308127.1:p.Asp215Ala, XP_024308127.1:p.Asp215Gly, XP_047297899.1:p.Asp215Ala, XP_047297899.1:p.Asp215Gly, XP_047297901.1:p.Asp215Ala, XP_047297901.1:p.Asp215Gly, XP_047297898.1:p.Asp215Ala, XP_047297898.1:p.Asp215Gly, XP_047297900.1:p.Asp215Ala, XP_047297900.1:p.Asp215Gly

Select item 124480295212.

rs1244802952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48482748 (GRCh38)
X:48341136 (GRCh37)
Canonical SPDI:: NC_000023.11:48482747:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48482748C>T, NC_000023.10:g.48341136C>T, NG_008879.1:g.11588C>T, NM_012280.4:c.911C>T, NM_012280.3:c.911C>T, NM_012280.2:c.911C>T, NM_177439.3:c.905C>T, NM_177439.2:c.905C>T, NM_177439.1:c.905C>T, NM_001282157.1:c.500C>T, NW_004070880.2:g.722177C>T, XR_949015.3:n.1196C>T, XR_949015.2:n.1225C>T, XR_949015.1:n.1329C>T, XR_949016.3:n.1196C>T, XR_949016.2:n.1225C>T, XR_949016.1:n.1329C>T, XM_005272595.3:c.905C>T, XM_005272595.2:c.905C>T, XM_005272595.1:c.905C>T, XM_024452359.2:c.911C>T, XM_024452359.1:c.911C>T, XR_007068186.1:n.1190C>T, NM_177434.1:c.905C>T, XM_047441943.1:c.911C>T, XM_047441945.1:c.905C>T, XM_047441942.1:c.911C>T, XM_047441944.1:c.905C>T, NP_036412.1:p.Pro304Leu, NP_803188.1:p.Pro302Leu, NP_001269086.1:p.Pro167Leu, XP_005272652.1:p.Pro302Leu, XP_024308127.1:p.Pro304Leu, XP_047297899.1:p.Pro304Leu, XP_047297901.1:p.Pro302Leu, XP_047297898.1:p.Pro304Leu, XP_047297900.1:p.Pro302Leu

Select item 124172815413.

rs1241728154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48482490 (GRCh38)
X:48340878 (GRCh37)
Canonical SPDI:: NC_000023.11:48482489:G:A,NC_000023.11:48482489:G:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48482490G>A, NC_000023.11:g.48482490G>T, NC_000023.10:g.48340878G>A, NC_000023.10:g.48340878G>T, NG_008879.1:g.11330G>A, NG_008879.1:g.11330G>T, NM_012280.4:c.743G>A, NM_012280.4:c.743G>T, NM_012280.3:c.743G>A, NM_012280.3:c.743G>T, NM_012280.2:c.743G>A, NM_012280.2:c.743G>T, NM_177439.3:c.737G>A, NM_177439.3:c.737G>T, NM_177439.2:c.737G>A, NM_177439.2:c.737G>T, NM_177439.1:c.737G>A, NM_177439.1:c.737G>T, NM_001282157.1:c.332G>A, NM_001282157.1:c.332G>T, NW_004070880.2:g.721919G>A, NW_004070880.2:g.721919G>T, XR_949015.3:n.1028G>A, XR_949015.3:n.1028G>T, XR_949015.2:n.1057G>A, XR_949015.2:n.1057G>T, XR_949015.1:n.1161G>A, XR_949015.1:n.1161G>T, XR_949016.3:n.1028G>A, XR_949016.3:n.1028G>T, XR_949016.2:n.1057G>A, XR_949016.2:n.1057G>T, XR_949016.1:n.1161G>A, XR_949016.1:n.1161G>T, XM_005272595.3:c.737G>A, XM_005272595.3:c.737G>T, XM_005272595.2:c.737G>A, XM_005272595.2:c.737G>T, XM_005272595.1:c.737G>A, XM_005272595.1:c.737G>T, XM_024452359.2:c.743G>A, XM_024452359.2:c.743G>T, XM_024452359.1:c.743G>A, XM_024452359.1:c.743G>T, XR_007068186.1:n.1022G>A, XR_007068186.1:n.1022G>T, NM_177434.1:c.737G>A, NM_177434.1:c.737G>T, XM_047441943.1:c.743G>A, XM_047441943.1:c.743G>T, XM_047441945.1:c.737G>A, XM_047441945.1:c.737G>T, XM_047441942.1:c.743G>A, XM_047441942.1:c.743G>T, XM_047441944.1:c.737G>A, XM_047441944.1:c.737G>T, NP_036412.1:p.Arg248His, NP_036412.1:p.Arg248Leu, NP_803188.1:p.Arg246His, NP_803188.1:p.Arg246Leu, NP_001269086.1:p.Arg111His, NP_001269086.1:p.Arg111Leu, XP_005272652.1:p.Arg246His, XP_005272652.1:p.Arg246Leu, XP_024308127.1:p.Arg248His, XP_024308127.1:p.Arg248Leu, XP_047297899.1:p.Arg248His, XP_047297899.1:p.Arg248Leu, XP_047297901.1:p.Arg246His, XP_047297901.1:p.Arg246Leu, XP_047297898.1:p.Arg248His, XP_047297898.1:p.Arg248Leu, XP_047297900.1:p.Arg246His, XP_047297900.1:p.Arg246Leu

Select item 121831695714.

rs1218316957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:48482729 (GRCh38)
X:48341117 (GRCh37)
Canonical SPDI:: NC_000023.11:48482728:A:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48482729A>T, NC_000023.10:g.48341117A>T, NG_008879.1:g.11569A>T, NM_012280.4:c.892A>T, NM_012280.3:c.892A>T, NM_012280.2:c.892A>T, NM_177439.3:c.886A>T, NM_177439.2:c.886A>T, NM_177439.1:c.886A>T, NM_001282157.1:c.481A>T, NW_004070880.2:g.722158A>T, XR_949015.3:n.1177A>T, XR_949015.2:n.1206A>T, XR_949015.1:n.1310A>T, XR_949016.3:n.1177A>T, XR_949016.2:n.1206A>T, XR_949016.1:n.1310A>T, XM_005272595.3:c.886A>T, XM_005272595.2:c.886A>T, XM_005272595.1:c.886A>T, XM_024452359.2:c.892A>T, XM_024452359.1:c.892A>T, XR_007068186.1:n.1171A>T, NM_177434.1:c.886A>T, XM_047441943.1:c.892A>T, XM_047441945.1:c.886A>T, XM_047441942.1:c.892A>T, XM_047441944.1:c.886A>T, NP_036412.1:p.Ser298Cys, NP_803188.1:p.Ser296Cys, NP_001269086.1:p.Ser161Cys, XP_005272652.1:p.Ser296Cys, XP_024308127.1:p.Ser298Cys, XP_047297899.1:p.Ser298Cys, XP_047297901.1:p.Ser296Cys, XP_047297898.1:p.Ser298Cys, XP_047297900.1:p.Ser296Cys

Select item 121706874515.

rs1217068745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:48481710 (GRCh38)
X:48340098 (GRCh37)
Canonical SPDI:: NC_000023.11:48481709:C:A
Gene:: FTSJ1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48481710C>A, NC_000023.10:g.48340098C>A, NG_008879.1:g.10550C>A, NM_012280.4:c.650C>A, NM_012280.3:c.650C>A, NM_012280.2:c.650C>A, NM_177439.3:c.650C>A, NM_177439.2:c.650C>A, NM_177439.1:c.650C>A, NM_001282157.1:c.239C>A, NW_004070880.2:g.721139C>A, XR_949015.3:n.935C>A, XR_949015.2:n.964C>A, XR_949015.1:n.1068C>A, XR_949016.3:n.935C>A, XR_949016.2:n.964C>A, XR_949016.1:n.1068C>A, XM_005272595.3:c.650C>A, XM_005272595.2:c.650C>A, XM_005272595.1:c.650C>A, XM_024452359.2:c.650C>A, XM_024452359.1:c.650C>A, XR_007068186.1:n.935C>A, NM_177434.1:c.650C>A, XM_047441943.1:c.650C>A, XM_047441945.1:c.650C>A, XM_047441942.1:c.650C>A, XM_047441944.1:c.650C>A, NP_036412.1:p.Ser217Tyr, NP_803188.1:p.Ser217Tyr, NP_001269086.1:p.Ser80Tyr, XP_005272652.1:p.Ser217Tyr, XP_024308127.1:p.Ser217Tyr, XP_047297899.1:p.Ser217Tyr, XP_047297901.1:p.Ser217Tyr, XP_047297898.1:p.Ser217Tyr, XP_047297900.1:p.Ser217Tyr

Select item 118180296116.

rs1181802961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48482645 (GRCh38)
X:48341033 (GRCh37)
Canonical SPDI:: NC_000023.11:48482644:A:G
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48482645A>G, NC_000023.10:g.48341033A>G, NG_008879.1:g.11485A>G, NM_012280.4:c.808A>G, NM_012280.3:c.808A>G, NM_012280.2:c.808A>G, NM_177439.3:c.802A>G, NM_177439.2:c.802A>G, NM_177439.1:c.802A>G, NM_001282157.1:c.397A>G, NW_004070880.2:g.722074A>G, XR_949015.3:n.1093A>G, XR_949015.2:n.1122A>G, XR_949015.1:n.1226A>G, XR_949016.3:n.1093A>G, XR_949016.2:n.1122A>G, XR_949016.1:n.1226A>G, XM_005272595.3:c.802A>G, XM_005272595.2:c.802A>G, XM_005272595.1:c.802A>G, XM_024452359.2:c.808A>G, XM_024452359.1:c.808A>G, XR_007068186.1:n.1087A>G, NM_177434.1:c.802A>G, XM_047441943.1:c.808A>G, XM_047441945.1:c.802A>G, XM_047441942.1:c.808A>G, XM_047441944.1:c.802A>G, NP_036412.1:p.Ile270Val, NP_803188.1:p.Ile268Val, NP_001269086.1:p.Ile133Val, XP_005272652.1:p.Ile268Val, XP_024308127.1:p.Ile270Val, XP_047297899.1:p.Ile270Val, XP_047297901.1:p.Ile268Val, XP_047297898.1:p.Ile270Val, XP_047297900.1:p.Ile268Val

Select item 117625965017.

rs1176259650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48481468 (GRCh38)
X:48339856 (GRCh37)
Canonical SPDI:: NC_000023.11:48481467:C:G
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48481468C>G, NC_000023.10:g.48339856C>G, NG_008879.1:g.10308C>G, NM_012280.4:c.511C>G, NM_012280.3:c.511C>G, NM_012280.2:c.511C>G, NM_177439.3:c.511C>G, NM_177439.2:c.511C>G, NM_177439.1:c.511C>G, NM_001282157.1:c.100C>G, NW_004070880.2:g.720897C>G, XR_949015.3:n.796C>G, XR_949015.2:n.825C>G, XR_949015.1:n.929C>G, XR_949016.3:n.796C>G, XR_949016.2:n.825C>G, XR_949016.1:n.929C>G, XM_005272595.3:c.511C>G, XM_005272595.2:c.511C>G, XM_005272595.1:c.511C>G, XM_024452359.2:c.511C>G, XM_024452359.1:c.511C>G, XR_007068186.1:n.796C>G, NM_177434.1:c.511C>G, XM_047441943.1:c.511C>G, XM_047441945.1:c.511C>G, XM_047441942.1:c.511C>G, XM_047441944.1:c.511C>G, NP_036412.1:p.Gln171Glu, NP_803188.1:p.Gln171Glu, NP_001269086.1:p.Gln34Glu, XP_005272652.1:p.Gln171Glu, XP_024308127.1:p.Gln171Glu, XP_047297899.1:p.Gln171Glu, XP_047297901.1:p.Gln171Glu, XP_047297898.1:p.Gln171Glu, XP_047297900.1:p.Gln171Glu

Select item 113540194218.

rs1135401942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48482489 (GRCh38)
X:48340877 (GRCh37)
Canonical SPDI:: NC_000023.11:48482488:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48482489C>T, NC_000023.10:g.48340877C>T, NG_008879.1:g.11329C>T, NM_012280.4:c.742C>T, NM_012280.3:c.742C>T, NM_012280.2:c.742C>T, NM_177439.3:c.736C>T, NM_177439.2:c.736C>T, NM_177439.1:c.736C>T, NM_001282157.1:c.331C>T, NW_004070880.2:g.721918C>T, XR_949015.3:n.1027C>T, XR_949015.2:n.1056C>T, XR_949015.1:n.1160C>T, XR_949016.3:n.1027C>T, XR_949016.2:n.1056C>T, XR_949016.1:n.1160C>T, XM_005272595.3:c.736C>T, XM_005272595.2:c.736C>T, XM_005272595.1:c.736C>T, XM_024452359.2:c.742C>T, XM_024452359.1:c.742C>T, XR_007068186.1:n.1021C>T, NM_177434.1:c.736C>T, XM_047441943.1:c.742C>T, XM_047441945.1:c.736C>T, XM_047441942.1:c.742C>T, XM_047441944.1:c.736C>T, NP_036412.1:p.Arg248Cys, NP_803188.1:p.Arg246Cys, NP_001269086.1:p.Arg111Cys, XP_005272652.1:p.Arg246Cys, XP_024308127.1:p.Arg248Cys, XP_047297899.1:p.Arg248Cys, XP_047297901.1:p.Arg246Cys, XP_047297898.1:p.Arg248Cys, XP_047297900.1:p.Arg246Cys

Select item 89732653019.

rs897326530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:48482623 (GRCh38)
X:48341011 (GRCh37)
Canonical SPDI:: NC_000023.11:48482622:C:A,NC_000023.11:48482622:C:T
Gene:: FTSJ1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48482623C>A, NC_000023.11:g.48482623C>T, NC_000023.10:g.48341011C>A, NC_000023.10:g.48341011C>T, NG_008879.1:g.11463C>A, NG_008879.1:g.11463C>T, NM_012280.4:c.786C>A, NM_012280.4:c.786C>T, NM_012280.3:c.786C>A, NM_012280.3:c.786C>T, NM_012280.2:c.786C>A, NM_012280.2:c.786C>T, NM_177439.3:c.780C>A, NM_177439.3:c.780C>T, NM_177439.2:c.780C>A, NM_177439.2:c.780C>T, NM_177439.1:c.780C>A, NM_177439.1:c.780C>T, NM_001282157.1:c.375C>A, NM_001282157.1:c.375C>T, NW_004070880.2:g.722052C>A, NW_004070880.2:g.722052C>T, XR_949015.3:n.1071C>A, XR_949015.3:n.1071C>T, XR_949015.2:n.1100C>A, XR_949015.2:n.1100C>T, XR_949015.1:n.1204C>A, XR_949015.1:n.1204C>T, XR_949016.3:n.1071C>A, XR_949016.3:n.1071C>T, XR_949016.2:n.1100C>A, XR_949016.2:n.1100C>T, XR_949016.1:n.1204C>A, XR_949016.1:n.1204C>T, XM_005272595.3:c.780C>A, XM_005272595.3:c.780C>T, XM_005272595.2:c.780C>A, XM_005272595.2:c.780C>T, XM_005272595.1:c.780C>A, XM_005272595.1:c.780C>T, XM_024452359.2:c.786C>A, XM_024452359.2:c.786C>T, XM_024452359.1:c.786C>A, XM_024452359.1:c.786C>T, XR_007068186.1:n.1065C>A, XR_007068186.1:n.1065C>T, NM_177434.1:c.780C>A, NM_177434.1:c.780C>T, XM_047441943.1:c.786C>A, XM_047441943.1:c.786C>T, XM_047441945.1:c.780C>A, XM_047441945.1:c.780C>T, XM_047441942.1:c.786C>A, XM_047441942.1:c.786C>T, XM_047441944.1:c.780C>A, XM_047441944.1:c.780C>T, NP_036412.1:p.Tyr262Ter, NP_803188.1:p.Tyr260Ter, NP_001269086.1:p.Tyr125Ter, XP_005272652.1:p.Tyr260Ter, XP_024308127.1:p.Tyr262Ter, XP_047297899.1:p.Tyr262Ter, XP_047297901.1:p.Tyr260Ter, XP_047297898.1:p.Tyr262Ter, XP_047297900.1:p.Tyr260Ter

Select item 86895242820.

rs868952428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48482705 (GRCh38)
X:48341093 (GRCh37)
Canonical SPDI:: NC_000023.11:48482704:A:G
Gene:: FTSJ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48482705A>G, NC_000023.10:g.48341093A>G, NG_008879.1:g.11545A>G, NM_012280.4:c.868A>G, NM_012280.3:c.868A>G, NM_012280.2:c.868A>G, NM_177439.3:c.862A>G, NM_177439.2:c.862A>G, NM_177439.1:c.862A>G, NM_001282157.1:c.457A>G, NW_004070880.2:g.722134A>G, XR_949015.3:n.1153A>G, XR_949015.2:n.1182A>G, XR_949015.1:n.1286A>G, XR_949016.3:n.1153A>G, XR_949016.2:n.1182A>G, XR_949016.1:n.1286A>G, XM_005272595.3:c.862A>G, XM_005272595.2:c.862A>G, XM_005272595.1:c.862A>G, XM_024452359.2:c.868A>G, XM_024452359.1:c.868A>G, XR_007068186.1:n.1147A>G, NM_177434.1:c.862A>G, XM_047441943.1:c.868A>G, XM_047441945.1:c.862A>G, XM_047441942.1:c.868A>G, XM_047441944.1:c.862A>G, NP_036412.1:p.Ile290Val, NP_803188.1:p.Ile288Val, NP_001269086.1:p.Ile153Val, XP_005272652.1:p.Ile288Val, XP_024308127.1:p.Ile290Val, XP_047297899.1:p.Ile290Val, XP_047297901.1:p.Ile288Val, XP_047297898.1:p.Ile290Val, XP_047297900.1:p.Ile288Val

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