Linked Data
dbSNP Id:
rs781551851
ExAC:
1:17312978 C / T
gnomAD v2:
1-17312978-C-T
gnomAD v3:
1-16986483-C-T
gnomAD v4:
1-16986483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986483C>T , CM000663.2:g.16986483C>T | GRCh38 |
| NC_000001.10:g.17312978C>T , CM000663.1:g.17312978C>T | GRCh37 |
| NC_000001.9:g.17185565C>T | NCBI36 |
| NG_009054.1:g.30446G>A | |
| NG_029688.1:g.104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3385G>A MANE Select | ENSP00000327214.8:p.Val1129Met | |
| ENST00000326735.12:c.3385G>A | ENSP00000327214.8:p.Val1129Met | |
| ENST00000341676.9:c.3104-125G>A | ENSP00000341115.5:n.3104-125G>A | |
| ENST00000452699.5:c.3370G>A | ENSP00000413307.1:p.Val1124Met | |
| ENST00000466561.1:n.1431G>A | ||
| ENST00000502418.1:c.824-125G>A | ENSP00000423065.1:n.824-125G>A | |
| NM_001141973.2:c.3370G>A | NP_001135445.1:p.Val1124Met | |
| NM_001141974.2:c.3104-125G>A | NP_001135446.1:n.3104-125G>A | |
| NM_022089.3:c.3385G>A | NP_071372.1:p.Val1129Met | |
| XM_005245809.1:c.3236-125G>A | XP_005245866.1:n.3236-125G>A | |
| XM_005245810.1:c.3233-125G>A | XP_005245867.1:n.3233-125G>A | |
| XM_005245811.1:c.3221-125G>A | XP_005245868.1:n.3221-125G>A | |
| XM_005245812.1:c.3209-125G>A | XP_005245869.1:n.3209-125G>A | |
| XM_005245813.1:c.3176-125G>A | XP_005245870.1:n.3176-125G>A | |
| XM_005245815.1:c.3119-125G>A | XP_005245872.1:n.3119-125G>A | |
| XM_006710512.1:c.3218-125G>A | XP_006710575.1:n.3218-125G>A | |
| XM_006710513.1:c.3194-125G>A | XP_006710576.1:n.3194-125G>A | |
| XM_011541128.1:c.3221-125G>A | XP_011539430.1:n.3221-125G>A | |
| XM_011541129.1:c.3029-125G>A | XP_011539431.1:n.3029-125G>A | |
| XM_017000844.1:c.3370G>A | XP_016856333.1:p.Val1124Met | |
| XM_017000845.1:c.3367G>A | XP_016856334.1:p.Val1123Met | |
| XM_017000846.1:c.3343G>A | XP_016856335.1:p.Val1115Met | |
| XM_017000847.1:c.3340G>A | XP_016856336.1:p.Val1114Met | |
| XM_017000848.1:c.3268G>A | XP_016856337.1:p.Val1090Met | |
| XM_017000849.1:c.3253G>A | XP_016856338.1:p.Val1085Met | |
| XM_017000850.1:c.3178G>A | XP_016856339.1:p.Val1060Met | |
| NM_022089.4:c.3385G>A MANE Select | NP_071372.1:p.Val1129Met | |
| NM_001141973.3:c.3370G>A | NP_001135445.1:p.Val1124Met | |
| NM_001141974.3:c.3104-125G>A | NP_001135446.1:n.3104-125G>A |