Linked Data
ClinVar Variation Id:
2887199
ClinVar RCV Id:
RCV003722263
dbSNP Id:
rs372129124
ExAC:
7:40038980 G / A
gnomAD v2:
7-40038980-G-A
gnomAD v3:
7-39999381-G-A
gnomAD v4:
7-39999381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39999381G>A , CM000669.2:g.39999381G>A | GRCh38 |
| NC_000007.13:g.40038980G>A , CM000669.1:g.40038980G>A | GRCh37 |
| NC_000007.12:g.40005505G>A | NCBI36 |
| NG_052965.1:g.54022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181839.10:c.2063G>A MANE Select | ENSP00000181839.4:p.Gly688Asp | |
| ENST00000340829.10:c.2063G>A | ENSP00000340557.5:p.Gly688Asp | |
| ENST00000484589.2:c.615G>A | ||
| ENST00000642213.1:n.545G>A | ||
| ENST00000642660.1:n.943G>A | ||
| ENST00000643859.1:c.954G>A | ||
| ENST00000643915.1:c.377G>A | ENSP00000496187.1:p.Gly126Asp | |
| ENST00000646039.1:c.1403G>A | ENSP00000494168.1:p.Gly468Asp | |
| ENST00000646437.1:c.697G>A | ||
| ENST00000647453.1:n.1132G>A | ||
| ENST00000647518.1:n.3900G>A | ||
| ENST00000181839.8:c.2063G>A | ENSP00000181839.4:p.Gly688Asp | |
| ENST00000340829.9:c.2063G>A | ENSP00000340557.5:p.Gly688Asp | |
| ENST00000484589.1:n.615G>A | ||
| ENST00000611390.1:c.221G>A | ENSP00000484610.1:p.Gly74Asp | |
| ENST00000613626.4:c.221G>A | ENSP00000480835.1:p.Gly74Asp | |
| NM_003718.4:c.2063G>A | NP_003709.3:p.Gly688Asp | |
| NM_031267.3:c.2063G>A | NP_112557.2:p.Gly688Asp | |
| XM_011515597.1:c.2063G>A | XP_011513899.1:p.Gly688Asp | |
| XM_011515598.1:c.2063G>A | XP_011513900.1:p.Gly688Asp | |
| XM_011515597.3:c.2063G>A | XP_011513899.1:p.Gly688Asp | |
| XM_017012750.2:c.2063G>A | XP_016868239.1:p.Gly688Asp | |
| XM_017012751.2:c.2063G>A | XP_016868240.1:p.Gly688Asp | |
| NM_003718.5:c.2063G>A MANE Select | NP_003709.3:p.Gly688Asp |