Linked Data
ClinVar Variation Id:
1912535
ClinVar RCV Id:
RCV002600937
dbSNP Id:
rs950374667
gnomAD v2:
1-17312836-G-A
gnomAD v4:
1-16986341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986341G>A , CM000663.2:g.16986341G>A | GRCh38 |
| NC_000001.10:g.17312836G>A , CM000663.1:g.17312836G>A | GRCh37 |
| NC_000001.9:g.17185423G>A | NCBI36 |
| NG_009054.1:g.30588C>T | |
| NG_029688.1:g.246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3423C>T MANE Select | ENSP00000327214.8:p.Cys1141= | |
| ENST00000326735.12:c.3423C>T | ENSP00000327214.8:p.Cys1141= | |
| ENST00000341676.9:c.3121C>T | ENSP00000341115.5:p.Pro1041Ser | |
| ENST00000452699.5:c.3408C>T | ENSP00000413307.1:p.Cys1136= | |
| ENST00000466561.1:n.1469C>T | ||
| ENST00000502418.1:c.841C>T | ENSP00000423065.1:p.Pro281Ser | |
| NM_001141973.2:c.3408C>T | NP_001135445.1:p.Cys1136= | |
| NM_001141974.2:c.3121C>T | NP_001135446.1:p.Pro1041Ser | |
| NM_022089.3:c.3423C>T | NP_071372.1:p.Cys1141= | |
| XM_005245809.1:c.3253C>T | XP_005245866.1:p.Pro1085Ser | |
| XM_005245810.1:c.3250C>T | XP_005245867.1:p.Pro1084Ser | |
| XM_005245811.1:c.3238C>T | XP_005245868.1:p.Pro1080Ser | |
| XM_005245812.1:c.3226C>T | XP_005245869.1:p.Pro1076Ser | |
| XM_005245813.1:c.3193C>T | XP_005245870.1:p.Pro1065Ser | |
| XM_005245815.1:c.3136C>T | XP_005245872.1:p.Pro1046Ser | |
| XM_006710512.1:c.3235C>T | XP_006710575.1:p.Pro1079Ser | |
| XM_006710513.1:c.3211C>T | XP_006710576.1:p.Pro1071Ser | |
| XM_011541128.1:c.3238C>T | XP_011539430.1:p.Pro1080Ser | |
| XM_011541129.1:c.3046C>T | XP_011539431.1:p.Pro1016Ser | |
| XM_017000844.1:c.3408C>T | XP_016856333.1:p.Cys1136= | |
| XM_017000845.1:c.3405C>T | XP_016856334.1:p.Cys1135= | |
| XM_017000846.1:c.3381C>T | XP_016856335.1:p.Cys1127= | |
| XM_017000847.1:c.3378C>T | XP_016856336.1:p.Cys1126= | |
| XM_017000848.1:c.3306C>T | XP_016856337.1:p.Cys1102= | |
| XM_017000849.1:c.3291C>T | XP_016856338.1:p.Cys1097= | |
| XM_017000850.1:c.3216C>T | XP_016856339.1:p.Cys1072= | |
| NM_022089.4:c.3423C>T MANE Select | NP_071372.1:p.Cys1141= | |
| NM_001141973.3:c.3408C>T | NP_001135445.1:p.Cys1136= | |
| NM_001141974.3:c.3121C>T | NP_001135446.1:p.Pro1041Ser |