Linked Data
dbSNP Id:
rs1523127
gnomAD v2:
3-119501039-C-A
gnomAD v3:
3-119782192-C-A
gnomAD v4:
3-119782192-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119782192C>A , CM000665.2:g.119782192C>A | GRCh38 |
| NC_000003.11:g.119501039C>A , CM000665.1:g.119501039C>A | GRCh37 |
| NC_000003.10:g.120983729C>A | NCBI36 |
| NG_011856.1:g.6709C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393716.8:c.-131C>A MANE Select | ENSP00000377319.3:n.-131C>A | |
| ENST00000466380.6:c.-131C>A | ENSP00000420297.2:n.-131C>A | |
| ENST00000648112.1:c.*2-25037C>A | ENSP00000497876.1:n.*2-25037C>A | |
| ENST00000393716.6:c.-131C>A | ENSP00000377319.2:n.-131C>A | |
| ENST00000466380.5:c.-131C>A | ENSP00000420297.1:n.-131C>A | |
| ENST00000474090.1:n.158C>A | ||
| NM_003889.3:c.-131C>A | NP_003880.3:n.-131C>A | |
| NM_033013.2:c.-131C>A | NP_148934.1:n.-131C>A | |
| NM_003889.4:c.-131C>A MANE Select | NP_003880.3:n.-131C>A | |
| NM_033013.3:c.-131C>A | NP_148934.1:n.-131C>A |