Linked Data
ClinVar Variation Id:
1420889
ClinVar RCV Id:
RCV001923609
dbSNP Id:
rs759327218
ExAC:
1:17312817 G / A
gnomAD v2:
1-17312817-G-A
gnomAD v3:
1-16986322-G-A
gnomAD v4:
1-16986322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986322G>A , CM000663.2:g.16986322G>A | GRCh38 |
| NC_000001.10:g.17312817G>A , CM000663.1:g.17312817G>A | GRCh37 |
| NC_000001.9:g.17185404G>A | NCBI36 |
| NG_009054.1:g.30607C>T | |
| NG_029688.1:g.265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3442C>T MANE Select | ENSP00000327214.8:p.Arg1148Cys | |
| ENST00000326735.12:c.3442C>T | ENSP00000327214.8:p.Arg1148Cys | |
| ENST00000341676.9:c.3140C>T | ENSP00000341115.5:p.Pro1047Leu | |
| ENST00000452699.5:c.3427C>T | ENSP00000413307.1:p.Arg1143Cys | |
| ENST00000466561.1:n.1488C>T | ||
| ENST00000502418.1:c.860C>T | ENSP00000423065.1:p.Pro287Leu | |
| NM_001141973.2:c.3427C>T | NP_001135445.1:p.Arg1143Cys | |
| NM_001141974.2:c.3140C>T | NP_001135446.1:p.Pro1047Leu | |
| NM_022089.3:c.3442C>T | NP_071372.1:p.Arg1148Cys | |
| XM_005245809.1:c.3272C>T | XP_005245866.1:p.Pro1091Leu | |
| XM_005245810.1:c.3269C>T | XP_005245867.1:p.Pro1090Leu | |
| XM_005245811.1:c.3257C>T | XP_005245868.1:p.Pro1086Leu | |
| XM_005245812.1:c.3245C>T | XP_005245869.1:p.Pro1082Leu | |
| XM_005245813.1:c.3212C>T | XP_005245870.1:p.Pro1071Leu | |
| XM_005245815.1:c.3155C>T | XP_005245872.1:p.Pro1052Leu | |
| XM_006710512.1:c.3254C>T | XP_006710575.1:p.Pro1085Leu | |
| XM_006710513.1:c.3230C>T | XP_006710576.1:p.Pro1077Leu | |
| XM_011541128.1:c.3257C>T | XP_011539430.1:p.Pro1086Leu | |
| XM_011541129.1:c.3065C>T | XP_011539431.1:p.Pro1022Leu | |
| XM_017000844.1:c.3427C>T | XP_016856333.1:p.Arg1143Cys | |
| XM_017000845.1:c.3424C>T | XP_016856334.1:p.Arg1142Cys | |
| XM_017000846.1:c.3400C>T | XP_016856335.1:p.Arg1134Cys | |
| XM_017000847.1:c.3397C>T | XP_016856336.1:p.Arg1133Cys | |
| XM_017000848.1:c.3325C>T | XP_016856337.1:p.Arg1109Cys | |
| XM_017000849.1:c.3310C>T | XP_016856338.1:p.Arg1104Cys | |
| XM_017000850.1:c.3235C>T | XP_016856339.1:p.Arg1079Cys | |
| NM_022089.4:c.3442C>T MANE Select | NP_071372.1:p.Arg1148Cys | |
| NM_001141973.3:c.3427C>T | NP_001135445.1:p.Arg1143Cys | |
| NM_001141974.3:c.3140C>T | NP_001135446.1:p.Pro1047Leu |