SNP Links for Protein (Select 557440852) - SNP

Links from Protein

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Select item 14853511531.

rs1485351153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 6:35747623 (GRCh38)
6:35715400 (GRCh37)
Canonical SPDI:: NC_000006.12:35747620:CTTCT:CT
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.35747623_35747625del, NC_000006.11:g.35715400_35715402del, NG_052798.1:g.18898_18900del, NM_145028.5:c.747_749del, NM_145028.4:c.747_749del, NM_145028.3:c.747_749del, NM_001286574.2:c.666_668del, NM_001286574.1:c.666_668del, NM_001286576.2:c.666_668del, NM_001286576.1:c.666_668del, XM_017010435.3:c.747_749del, XM_017010435.2:c.747_749del, XM_017010435.1:c.747_749del, XM_011514381.3:c.552_554del, XM_011514381.2:c.552_554del, XM_011514381.1:c.552_554del, XM_011514382.3:c.405_407del, XM_011514382.2:c.405_407del, XM_011514382.1:c.405_407del, XM_047418347.1:c.666_668del, XM_047418343.1:c.747_749del, XM_047418344.1:c.747_749del, XM_047418345.1:c.747_749del, XM_047418346.1:c.747_749del, XM_047418348.1:c.666_668del, NP_659465.2:p.Leu250del, NP_001273503.1:p.Leu223del, NP_001273505.1:p.Leu223del, XP_016865924.1:p.Leu250del, XP_011512683.1:p.Leu185del, XP_011512684.1:p.Leu136del, XP_047274303.1:p.Leu223del, XP_047274299.1:p.Leu250del, XP_047274300.1:p.Leu250del, XP_047274301.1:p.Leu250del, XP_047274302.1:p.Leu250del, XP_047274304.1:p.Leu223del

Select item 14850232242.

rs1485023224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:35748817 (GRCh38)
6:35716594 (GRCh37)
Canonical SPDI:: NC_000006.12:35748816:G:T
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35748817G>T, NC_000006.11:g.35716594G>T, NG_052798.1:g.20092G>T, NM_145028.5:c.1051G>T, NM_145028.4:c.1051G>T, NM_145028.3:c.1051G>T, NM_001286574.2:c.970G>T, NM_001286574.1:c.970G>T, NM_001286576.2:c.940G>T, NM_001286576.1:c.940G>T, XM_017010435.3:c.1051G>T, XM_017010435.2:c.1051G>T, XM_017010435.1:c.1051G>T, XM_011514381.3:c.856G>T, XM_011514381.2:c.856G>T, XM_011514381.1:c.856G>T, XM_011514382.3:c.709G>T, XM_011514382.2:c.709G>T, XM_011514382.1:c.709G>T, XM_047418347.1:c.970G>T, XM_047418343.1:c.1051G>T, XM_047418344.1:c.1051G>T, XM_047418345.1:c.1051G>T, XM_047418346.1:c.1051G>T, XM_047418348.1:c.970G>T, NP_659465.2:p.Ala351Ser, NP_001273503.1:p.Ala324Ser, NP_001273505.1:p.Ala314Ser, XP_016865924.1:p.Ala351Ser, XP_011512683.1:p.Ala286Ser, XP_011512684.1:p.Ala237Ser, XP_047274303.1:p.Ala324Ser, XP_047274299.1:p.Ala351Ser, XP_047274300.1:p.Ala351Ser, XP_047274301.1:p.Ala351Ser, XP_047274302.1:p.Ala351Ser, XP_047274304.1:p.Ala324Ser

Select item 14834436223.

rs1483443622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:35748663 (GRCh38)
6:35716440 (GRCh37)
Canonical SPDI:: NC_000006.12:35748662:G:T
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35748663G>T, NC_000006.11:g.35716440G>T, NG_052798.1:g.19938G>T, NM_145028.5:c.897G>T, NM_145028.4:c.897G>T, NM_145028.3:c.897G>T, NM_001286574.2:c.816G>T, NM_001286574.1:c.816G>T, NM_001286576.2:c.786G>T, NM_001286576.1:c.786G>T, XM_017010435.3:c.897G>T, XM_017010435.2:c.897G>T, XM_017010435.1:c.897G>T, XM_011514381.3:c.702G>T, XM_011514381.2:c.702G>T, XM_011514381.1:c.702G>T, XM_011514382.3:c.555G>T, XM_011514382.2:c.555G>T, XM_011514382.1:c.555G>T, XM_047418347.1:c.816G>T, XM_047418343.1:c.897G>T, XM_047418344.1:c.897G>T, XM_047418345.1:c.897G>T, XM_047418346.1:c.897G>T, XM_047418348.1:c.816G>T, NP_659465.2:p.Trp299Cys, NP_001273503.1:p.Trp272Cys, NP_001273505.1:p.Trp262Cys, XP_016865924.1:p.Trp299Cys, XP_011512683.1:p.Trp234Cys, XP_011512684.1:p.Trp185Cys, XP_047274303.1:p.Trp272Cys, XP_047274299.1:p.Trp299Cys, XP_047274300.1:p.Trp299Cys, XP_047274301.1:p.Trp299Cys, XP_047274302.1:p.Trp299Cys, XP_047274304.1:p.Trp272Cys

Select item 14753103824.

rs1475310382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35738067 (GRCh38)
6:35705844 (GRCh37)
Canonical SPDI:: NC_000006.12:35738066:T:C
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.35738067T>C, NC_000006.11:g.35705844T>C, NG_052798.1:g.9342T>C, NM_145028.5:c.285T>C, NM_145028.4:c.285T>C, NM_145028.3:c.285T>C, NM_001286574.2:c.204T>C, NM_001286574.1:c.204T>C, NM_001286576.2:c.204T>C, NM_001286576.1:c.204T>C, XM_017010435.3:c.285T>C, XM_017010435.2:c.285T>C, XM_017010435.1:c.285T>C, XM_011514381.3:c.90T>C, XM_011514381.2:c.90T>C, XM_011514381.1:c.90T>C, XM_011514382.3:c.-58T>C, XM_011514382.2:c.-58T>C, XM_011514382.1:c.-58T>C, XM_047418347.1:c.204T>C, XM_047418343.1:c.285T>C, XM_047418344.1:c.285T>C, XM_047418345.1:c.285T>C, XM_047418346.1:c.285T>C, XM_047418348.1:c.204T>C

Select item 14726517155.

rs1472651715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:35737125 (GRCh38)
6:35704902 (GRCh37)
Canonical SPDI:: NC_000006.12:35737124:C:A
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35737125C>A, NC_000006.11:g.35704902C>A, NG_052798.1:g.8400C>A, NM_145028.5:c.17C>A, NM_145028.4:c.17C>A, NM_145028.3:c.17C>A, NM_001286574.2:c.17C>A, NM_001286574.1:c.17C>A, NM_001286576.2:c.17C>A, NM_001286576.1:c.17C>A, XM_017010435.3:c.17C>A, XM_017010435.2:c.17C>A, XM_017010435.1:c.17C>A, XM_011514382.3:c.-273C>A, XM_011514382.2:c.-273C>A, XM_011514382.1:c.-273C>A, XM_047418347.1:c.17C>A, XM_047418343.1:c.17C>A, XM_047418344.1:c.17C>A, XM_047418345.1:c.17C>A, XM_047418346.1:c.17C>A, XM_047418348.1:c.17C>A, NP_659465.2:p.Pro6His, NP_001273503.1:p.Pro6His, NP_001273505.1:p.Pro6His, XP_016865924.1:p.Pro6His, XP_047274303.1:p.Pro6His, XP_047274299.1:p.Pro6His, XP_047274300.1:p.Pro6His, XP_047274301.1:p.Pro6His, XP_047274302.1:p.Pro6His, XP_047274304.1:p.Pro6His

Select item 14681436636.

rs1468143663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:35747363 (GRCh38)
6:35715140 (GRCh37)
Canonical SPDI:: NC_000006.12:35747362:G:T
Gene:: ARMC12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35747363G>T, NC_000006.11:g.35715140G>T, NG_052798.1:g.18638G>T, NM_145028.5:c.628G>T, NM_145028.4:c.628G>T, NM_145028.3:c.628G>T, NM_001286574.2:c.547G>T, NM_001286574.1:c.547G>T, NM_001286576.2:c.547G>T, NM_001286576.1:c.547G>T, XM_017010435.3:c.628G>T, XM_017010435.2:c.628G>T, XM_017010435.1:c.628G>T, XM_011514381.3:c.433G>T, XM_011514381.2:c.433G>T, XM_011514381.1:c.433G>T, XM_011514382.3:c.286G>T, XM_011514382.2:c.286G>T, XM_011514382.1:c.286G>T, XM_047418347.1:c.547G>T, XM_047418343.1:c.628G>T, XM_047418344.1:c.628G>T, XM_047418345.1:c.628G>T, XM_047418346.1:c.628G>T, XM_047418348.1:c.547G>T, NP_659465.2:p.Val210Leu, NP_001273503.1:p.Val183Leu, NP_001273505.1:p.Val183Leu, XP_016865924.1:p.Val210Leu, XP_011512683.1:p.Val145Leu, XP_011512684.1:p.Val96Leu, XP_047274303.1:p.Val183Leu, XP_047274299.1:p.Val210Leu, XP_047274300.1:p.Val210Leu, XP_047274301.1:p.Val210Leu, XP_047274302.1:p.Val210Leu, XP_047274304.1:p.Val183Leu

Select item 14642299217.

rs1464229921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35737240 (GRCh38)
6:35705017 (GRCh37)
Canonical SPDI:: NC_000006.12:35737239:C:T
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35737240C>T, NC_000006.11:g.35705017C>T, NG_052798.1:g.8515C>T, NM_145028.5:c.132C>T, NM_145028.4:c.132C>T, NM_145028.3:c.132C>T, NM_001286574.2:c.132C>T, NM_001286574.1:c.132C>T, NM_001286576.2:c.132C>T, NM_001286576.1:c.132C>T, XM_017010435.3:c.132C>T, XM_017010435.2:c.132C>T, XM_017010435.1:c.132C>T, XM_011514382.3:c.-158C>T, XM_011514382.2:c.-158C>T, XM_011514382.1:c.-158C>T, XM_047418347.1:c.132C>T, XM_047418343.1:c.132C>T, XM_047418344.1:c.132C>T, XM_047418345.1:c.132C>T, XM_047418346.1:c.132C>T, XM_047418348.1:c.132C>T

Select item 14628539268.

rs1462853926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35738421 (GRCh38)
6:35706198 (GRCh37)
Canonical SPDI:: NC_000006.12:35738420:G:A
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.35738421G>A, NC_000006.11:g.35706198G>A, NG_052798.1:g.9696G>A, NM_145028.5:c.428G>A, NM_145028.4:c.428G>A, NM_145028.3:c.428G>A, NM_001286574.2:c.347G>A, NM_001286574.1:c.347G>A, NM_001286576.2:c.347G>A, NM_001286576.1:c.347G>A, XM_017010435.3:c.428G>A, XM_017010435.2:c.428G>A, XM_017010435.1:c.428G>A, XM_011514381.3:c.233G>A, XM_011514381.2:c.233G>A, XM_011514381.1:c.233G>A, XM_011514382.3:c.86G>A, XM_011514382.2:c.86G>A, XM_011514382.1:c.86G>A, XM_047418347.1:c.347G>A, XM_047418343.1:c.428G>A, XM_047418344.1:c.428G>A, XM_047418345.1:c.428G>A, XM_047418346.1:c.428G>A, XM_047418348.1:c.347G>A, NP_659465.2:p.Gly143Asp, NP_001273503.1:p.Gly116Asp, NP_001273505.1:p.Gly116Asp, XP_016865924.1:p.Gly143Asp, XP_011512683.1:p.Gly78Asp, XP_011512684.1:p.Gly29Asp, XP_047274303.1:p.Gly116Asp, XP_047274299.1:p.Gly143Asp, XP_047274300.1:p.Gly143Asp, XP_047274301.1:p.Gly143Asp, XP_047274302.1:p.Gly143Asp, XP_047274304.1:p.Gly116Asp

Select item 14588514489.

rs1458851448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:35747280 (GRCh38)
6:35715057 (GRCh37)
Canonical SPDI:: NC_000006.12:35747279:T:A
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.35747280T>A, NC_000006.11:g.35715057T>A, NG_052798.1:g.18555T>A, NM_145028.5:c.545T>A, NM_145028.4:c.545T>A, NM_145028.3:c.545T>A, NM_001286574.2:c.464T>A, NM_001286574.1:c.464T>A, NM_001286576.2:c.464T>A, NM_001286576.1:c.464T>A, XM_017010435.3:c.545T>A, XM_017010435.2:c.545T>A, XM_017010435.1:c.545T>A, XM_011514381.3:c.350T>A, XM_011514381.2:c.350T>A, XM_011514381.1:c.350T>A, XM_011514382.3:c.203T>A, XM_011514382.2:c.203T>A, XM_011514382.1:c.203T>A, XM_047418347.1:c.464T>A, XM_047418343.1:c.545T>A, XM_047418344.1:c.545T>A, XM_047418345.1:c.545T>A, XM_047418346.1:c.545T>A, XM_047418348.1:c.464T>A, NP_659465.2:p.Leu182His, NP_001273503.1:p.Leu155His, NP_001273505.1:p.Leu155His, XP_016865924.1:p.Leu182His, XP_011512683.1:p.Leu117His, XP_011512684.1:p.Leu68His, XP_047274303.1:p.Leu155His, XP_047274299.1:p.Leu182His, XP_047274300.1:p.Leu182His, XP_047274301.1:p.Leu182His, XP_047274302.1:p.Leu182His, XP_047274304.1:p.Leu155His

Select item 145629234010.

rs1456292340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35738053 (GRCh38)
6:35705830 (GRCh37)
Canonical SPDI:: NC_000006.12:35738052:G:A
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.35738053G>A, NC_000006.11:g.35705830G>A, NG_052798.1:g.9328G>A, NM_145028.5:c.271G>A, NM_145028.4:c.271G>A, NM_145028.3:c.271G>A, NM_001286574.2:c.190G>A, NM_001286574.1:c.190G>A, NM_001286576.2:c.190G>A, NM_001286576.1:c.190G>A, XM_017010435.3:c.271G>A, XM_017010435.2:c.271G>A, XM_017010435.1:c.271G>A, XM_011514381.3:c.76G>A, XM_011514381.2:c.76G>A, XM_011514381.1:c.76G>A, XM_011514382.3:c.-72G>A, XM_011514382.2:c.-72G>A, XM_011514382.1:c.-72G>A, XM_047418347.1:c.190G>A, XM_047418343.1:c.271G>A, XM_047418344.1:c.271G>A, XM_047418345.1:c.271G>A, XM_047418346.1:c.271G>A, XM_047418348.1:c.190G>A, NP_659465.2:p.Gly91Arg, NP_001273503.1:p.Gly64Arg, NP_001273505.1:p.Gly64Arg, XP_016865924.1:p.Gly91Arg, XP_011512683.1:p.Gly26Arg, XP_047274303.1:p.Gly64Arg, XP_047274299.1:p.Gly91Arg, XP_047274300.1:p.Gly91Arg, XP_047274301.1:p.Gly91Arg, XP_047274302.1:p.Gly91Arg, XP_047274304.1:p.Gly64Arg

Select item 145385007911.

rs1453850079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35748569 (GRCh38)
6:35716346 (GRCh37)
Canonical SPDI:: NC_000006.12:35748568:C:T
Gene:: ARMC12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.35748569C>T, NC_000006.11:g.35716346C>T, NG_052798.1:g.19844C>T, NM_145028.5:c.803C>T, NM_145028.4:c.803C>T, NM_145028.3:c.803C>T, NM_001286574.2:c.722C>T, NM_001286574.1:c.722C>T, NM_001286576.2:c.692C>T, NM_001286576.1:c.692C>T, XM_017010435.3:c.803C>T, XM_017010435.2:c.803C>T, XM_017010435.1:c.803C>T, XM_011514381.3:c.608C>T, XM_011514381.2:c.608C>T, XM_011514381.1:c.608C>T, XM_011514382.3:c.461C>T, XM_011514382.2:c.461C>T, XM_011514382.1:c.461C>T, XM_047418347.1:c.722C>T, XM_047418343.1:c.803C>T, XM_047418344.1:c.803C>T, XM_047418345.1:c.803C>T, XM_047418346.1:c.803C>T, XM_047418348.1:c.722C>T, NP_659465.2:p.Pro268Leu, NP_001273503.1:p.Pro241Leu, NP_001273505.1:p.Pro231Leu, XP_016865924.1:p.Pro268Leu, XP_011512683.1:p.Pro203Leu, XP_011512684.1:p.Pro154Leu, XP_047274303.1:p.Pro241Leu, XP_047274299.1:p.Pro268Leu, XP_047274300.1:p.Pro268Leu, XP_047274301.1:p.Pro268Leu, XP_047274302.1:p.Pro268Leu, XP_047274304.1:p.Pro241Leu

Select item 145367821712.

rs1453678217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:35747291 (GRCh38)
6:35715068 (GRCh37)
Canonical SPDI:: NC_000006.12:35747290:T:G
Gene:: ARMC12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35747291T>G, NC_000006.11:g.35715068T>G, NG_052798.1:g.18566T>G, NM_145028.5:c.556T>G, NM_145028.4:c.556T>G, NM_145028.3:c.556T>G, NM_001286574.2:c.475T>G, NM_001286574.1:c.475T>G, NM_001286576.2:c.475T>G, NM_001286576.1:c.475T>G, XM_017010435.3:c.556T>G, XM_017010435.2:c.556T>G, XM_017010435.1:c.556T>G, XM_011514381.3:c.361T>G, XM_011514381.2:c.361T>G, XM_011514381.1:c.361T>G, XM_011514382.3:c.214T>G, XM_011514382.2:c.214T>G, XM_011514382.1:c.214T>G, XM_047418347.1:c.475T>G, XM_047418343.1:c.556T>G, XM_047418344.1:c.556T>G, XM_047418345.1:c.556T>G, XM_047418346.1:c.556T>G, XM_047418348.1:c.475T>G, NP_659465.2:p.Ser186Ala, NP_001273503.1:p.Ser159Ala, NP_001273505.1:p.Ser159Ala, XP_016865924.1:p.Ser186Ala, XP_011512683.1:p.Ser121Ala, XP_011512684.1:p.Ser72Ala, XP_047274303.1:p.Ser159Ala, XP_047274299.1:p.Ser186Ala, XP_047274300.1:p.Ser186Ala, XP_047274301.1:p.Ser186Ala, XP_047274302.1:p.Ser186Ala, XP_047274304.1:p.Ser159Ala

Select item 144225698813.

rs1442256988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35747317 (GRCh38)
6:35715094 (GRCh37)
Canonical SPDI:: NC_000006.12:35747316:C:T
Gene:: ARMC12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35747317C>T, NC_000006.11:g.35715094C>T, NG_052798.1:g.18592C>T, NM_145028.5:c.582C>T, NM_145028.4:c.582C>T, NM_145028.3:c.582C>T, NM_001286574.2:c.501C>T, NM_001286574.1:c.501C>T, NM_001286576.2:c.501C>T, NM_001286576.1:c.501C>T, XM_017010435.3:c.582C>T, XM_017010435.2:c.582C>T, XM_017010435.1:c.582C>T, XM_011514381.3:c.387C>T, XM_011514381.2:c.387C>T, XM_011514381.1:c.387C>T, XM_011514382.3:c.240C>T, XM_011514382.2:c.240C>T, XM_011514382.1:c.240C>T, XM_047418347.1:c.501C>T, XM_047418343.1:c.582C>T, XM_047418344.1:c.582C>T, XM_047418345.1:c.582C>T, XM_047418346.1:c.582C>T, XM_047418348.1:c.501C>T

Select item 143224368914.

rs1432243689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35748589 (GRCh38)
6:35716366 (GRCh37)
Canonical SPDI:: NC_000006.12:35748588:C:T
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000895/4 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.35748589C>T, NC_000006.11:g.35716366C>T, NG_052798.1:g.19864C>T, NM_145028.5:c.823C>T, NM_145028.4:c.823C>T, NM_145028.3:c.823C>T, NM_001286574.2:c.742C>T, NM_001286574.1:c.742C>T, NM_001286576.2:c.712C>T, NM_001286576.1:c.712C>T, XM_017010435.3:c.823C>T, XM_017010435.2:c.823C>T, XM_017010435.1:c.823C>T, XM_011514381.3:c.628C>T, XM_011514381.2:c.628C>T, XM_011514381.1:c.628C>T, XM_011514382.3:c.481C>T, XM_011514382.2:c.481C>T, XM_011514382.1:c.481C>T, XM_047418347.1:c.742C>T, XM_047418343.1:c.823C>T, XM_047418344.1:c.823C>T, XM_047418345.1:c.823C>T, XM_047418346.1:c.823C>T, XM_047418348.1:c.742C>T

Select item 143033572215.

rs1430335722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35748770 (GRCh38)
6:35716547 (GRCh37)
Canonical SPDI:: NC_000006.12:35748769:A:G
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35748770A>G, NC_000006.11:g.35716547A>G, NG_052798.1:g.20045A>G, NM_145028.5:c.1004A>G, NM_145028.4:c.1004A>G, NM_145028.3:c.1004A>G, NM_001286574.2:c.923A>G, NM_001286574.1:c.923A>G, NM_001286576.2:c.893A>G, NM_001286576.1:c.893A>G, XM_017010435.3:c.1004A>G, XM_017010435.2:c.1004A>G, XM_017010435.1:c.1004A>G, XM_011514381.3:c.809A>G, XM_011514381.2:c.809A>G, XM_011514381.1:c.809A>G, XM_011514382.3:c.662A>G, XM_011514382.2:c.662A>G, XM_011514382.1:c.662A>G, XM_047418347.1:c.923A>G, XM_047418343.1:c.1004A>G, XM_047418344.1:c.1004A>G, XM_047418345.1:c.1004A>G, XM_047418346.1:c.1004A>G, XM_047418348.1:c.923A>G, NP_659465.2:p.Gln335Arg, NP_001273503.1:p.Gln308Arg, NP_001273505.1:p.Gln298Arg, XP_016865924.1:p.Gln335Arg, XP_011512683.1:p.Gln270Arg, XP_011512684.1:p.Gln221Arg, XP_047274303.1:p.Gln308Arg, XP_047274299.1:p.Gln335Arg, XP_047274300.1:p.Gln335Arg, XP_047274301.1:p.Gln335Arg, XP_047274302.1:p.Gln335Arg, XP_047274304.1:p.Gln308Arg

Select item 142537681216.

rs1425376812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:35748753 (GRCh38)
6:35716530 (GRCh37)
Canonical SPDI:: NC_000006.12:35748752:G:A,NC_000006.12:35748752:G:C
Gene:: ARMC12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.35748753G>A, NC_000006.12:g.35748753G>C, NC_000006.11:g.35716530G>A, NC_000006.11:g.35716530G>C, NG_052798.1:g.20028G>A, NG_052798.1:g.20028G>C, NM_145028.5:c.987G>A, NM_145028.5:c.987G>C, NM_145028.4:c.987G>A, NM_145028.4:c.987G>C, NM_145028.3:c.987G>A, NM_145028.3:c.987G>C, NM_001286574.2:c.906G>A, NM_001286574.2:c.906G>C, NM_001286574.1:c.906G>A, NM_001286574.1:c.906G>C, NM_001286576.2:c.876G>A, NM_001286576.2:c.876G>C, NM_001286576.1:c.876G>A, NM_001286576.1:c.876G>C, XM_017010435.3:c.987G>A, XM_017010435.3:c.987G>C, XM_017010435.2:c.987G>A, XM_017010435.2:c.987G>C, XM_017010435.1:c.987G>A, XM_017010435.1:c.987G>C, XM_011514381.3:c.792G>A, XM_011514381.3:c.792G>C, XM_011514381.2:c.792G>A, XM_011514381.2:c.792G>C, XM_011514381.1:c.792G>A, XM_011514381.1:c.792G>C, XM_011514382.3:c.645G>A, XM_011514382.3:c.645G>C, XM_011514382.2:c.645G>A, XM_011514382.2:c.645G>C, XM_011514382.1:c.645G>A, XM_011514382.1:c.645G>C, XM_047418347.1:c.906G>A, XM_047418347.1:c.906G>C, XM_047418343.1:c.987G>A, XM_047418343.1:c.987G>C, XM_047418344.1:c.987G>A, XM_047418344.1:c.987G>C, XM_047418345.1:c.987G>A, XM_047418345.1:c.987G>C, XM_047418346.1:c.987G>A, XM_047418346.1:c.987G>C, XM_047418348.1:c.906G>A, XM_047418348.1:c.906G>C, NP_659465.2:p.Glu329Asp, NP_001273503.1:p.Glu302Asp, NP_001273505.1:p.Glu292Asp, XP_016865924.1:p.Glu329Asp, XP_011512683.1:p.Glu264Asp, XP_011512684.1:p.Glu215Asp, XP_047274303.1:p.Glu302Asp, XP_047274299.1:p.Glu329Asp, XP_047274300.1:p.Glu329Asp, XP_047274301.1:p.Glu329Asp, XP_047274302.1:p.Glu329Asp, XP_047274304.1:p.Glu302Asp

Select item 142013033917.

rs1420130339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:35737238 (GRCh38)
6:35705015 (GRCh37)
Canonical SPDI:: NC_000006.12:35737237:C:A
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.35737238C>A, NC_000006.11:g.35705015C>A, NG_052798.1:g.8513C>A, NM_145028.5:c.130C>A, NM_145028.4:c.130C>A, NM_145028.3:c.130C>A, NM_001286574.2:c.130C>A, NM_001286574.1:c.130C>A, NM_001286576.2:c.130C>A, NM_001286576.1:c.130C>A, XM_017010435.3:c.130C>A, XM_017010435.2:c.130C>A, XM_017010435.1:c.130C>A, XM_011514382.3:c.-160C>A, XM_011514382.2:c.-160C>A, XM_011514382.1:c.-160C>A, XM_047418347.1:c.130C>A, XM_047418343.1:c.130C>A, XM_047418344.1:c.130C>A, XM_047418345.1:c.130C>A, XM_047418346.1:c.130C>A, XM_047418348.1:c.130C>A, NP_659465.2:p.Pro44Thr, NP_001273503.1:p.Pro44Thr, NP_001273505.1:p.Pro44Thr, XP_016865924.1:p.Pro44Thr, XP_047274303.1:p.Pro44Thr, XP_047274299.1:p.Pro44Thr, XP_047274300.1:p.Pro44Thr, XP_047274301.1:p.Pro44Thr, XP_047274302.1:p.Pro44Thr, XP_047274304.1:p.Pro44Thr

Select item 141677387318.

rs1416773873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35738134 (GRCh38)
6:35705911 (GRCh37)
Canonical SPDI:: NC_000006.12:35738133:C:T
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35738134C>T, NC_000006.11:g.35705911C>T, NG_052798.1:g.9409C>T, NM_145028.5:c.352C>T, NM_145028.4:c.352C>T, NM_145028.3:c.352C>T, NM_001286574.2:c.271C>T, NM_001286574.1:c.271C>T, NM_001286576.2:c.271C>T, NM_001286576.1:c.271C>T, XM_017010435.3:c.352C>T, XM_017010435.2:c.352C>T, XM_017010435.1:c.352C>T, XM_011514381.3:c.157C>T, XM_011514381.2:c.157C>T, XM_011514381.1:c.157C>T, XM_011514382.3:c.10C>T, XM_011514382.2:c.10C>T, XM_011514382.1:c.10C>T, XM_047418347.1:c.271C>T, XM_047418343.1:c.352C>T, XM_047418344.1:c.352C>T, XM_047418345.1:c.352C>T, XM_047418346.1:c.352C>T, XM_047418348.1:c.271C>T, NP_659465.2:p.His118Tyr, NP_001273503.1:p.His91Tyr, NP_001273505.1:p.His91Tyr, XP_016865924.1:p.His118Tyr, XP_011512683.1:p.His53Tyr, XP_011512684.1:p.His4Tyr, XP_047274303.1:p.His91Tyr, XP_047274299.1:p.His118Tyr, XP_047274300.1:p.His118Tyr, XP_047274301.1:p.His118Tyr, XP_047274302.1:p.His118Tyr, XP_047274304.1:p.His91Tyr

Select item 141577079219.

rs1415770792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35738405 (GRCh38)
6:35706182 (GRCh37)
Canonical SPDI:: NC_000006.12:35738404:G:A
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35738405G>A, NC_000006.11:g.35706182G>A, NG_052798.1:g.9680G>A, NM_145028.5:c.412G>A, NM_145028.4:c.412G>A, NM_145028.3:c.412G>A, NM_001286574.2:c.331G>A, NM_001286574.1:c.331G>A, NM_001286576.2:c.331G>A, NM_001286576.1:c.331G>A, XM_017010435.3:c.412G>A, XM_017010435.2:c.412G>A, XM_017010435.1:c.412G>A, XM_011514381.3:c.217G>A, XM_011514381.2:c.217G>A, XM_011514381.1:c.217G>A, XM_011514382.3:c.70G>A, XM_011514382.2:c.70G>A, XM_011514382.1:c.70G>A, XM_047418347.1:c.331G>A, XM_047418343.1:c.412G>A, XM_047418344.1:c.412G>A, XM_047418345.1:c.412G>A, XM_047418346.1:c.412G>A, XM_047418348.1:c.331G>A, NP_659465.2:p.Asp138Asn, NP_001273503.1:p.Asp111Asn, NP_001273505.1:p.Asp111Asn, XP_016865924.1:p.Asp138Asn, XP_011512683.1:p.Asp73Asn, XP_011512684.1:p.Asp24Asn, XP_047274303.1:p.Asp111Asn, XP_047274299.1:p.Asp138Asn, XP_047274300.1:p.Asp138Asn, XP_047274301.1:p.Asp138Asn, XP_047274302.1:p.Asp138Asn, XP_047274304.1:p.Asp111Asn

Select item 141406736920.

rs1414067369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35737192 (GRCh38)
6:35704969 (GRCh37)
Canonical SPDI:: NC_000006.12:35737191:C:T
Gene:: ARMC12 (Varview), LOC285847 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35737192C>T, NC_000006.11:g.35704969C>T, NG_052798.1:g.8467C>T, NM_145028.5:c.84C>T, NM_145028.4:c.84C>T, NM_145028.3:c.84C>T, NM_001286574.2:c.84C>T, NM_001286574.1:c.84C>T, NM_001286576.2:c.84C>T, NM_001286576.1:c.84C>T, XM_017010435.3:c.84C>T, XM_017010435.2:c.84C>T, XM_017010435.1:c.84C>T, XM_011514382.3:c.-206C>T, XM_011514382.2:c.-206C>T, XM_011514382.1:c.-206C>T, XM_047418347.1:c.84C>T, XM_047418343.1:c.84C>T, XM_047418344.1:c.84C>T, XM_047418345.1:c.84C>T, XM_047418346.1:c.84C>T, XM_047418348.1:c.84C>T

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