Linked Data
dbSNP Id:
rs12591257
gnomAD v2:
15-87064089-A-C
gnomAD v3:
15-86520858-A-C
gnomAD v4:
15-86520858-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86520858A>C , CM000677.2:g.86520858A>C | GRCh38 |
| NC_000015.9:g.87064089A>C , CM000677.1:g.87064089A>C | GRCh37 |
| NC_000015.8:g.84865093A>C | NCBI36 |
| NG_033836.1:g.383848A>C | |
| NG_033836.2:g.446051A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441037.7:c.2556-1952A>C | ENSP00000413001.3:n.2556-1952A>C | |
| ENST00000614907.3:c.2556-1952A>C MANE Select | ENSP00000490608.2:n.2556-1952A>C | |
| ENST00000421325.3:c.2418-1952A>C | ENSP00000397173.3:n.2418-1952A>C | |
| ENST00000441037.6:c.2418-1952A>C | ENSP00000413001.2:n.2418-1952A>C | |
| NM_152336.2:c.2418-1952A>C | NP_689549.2:n.2418-1952A>C | |
| XM_011521226.1:c.2556-1952A>C | XP_011519528.1:n.2556-1952A>C | |
| XM_011521227.1:c.2556-1952A>C | XP_011519529.1:n.2556-1952A>C | |
| XR_931750.1:n.2597-1952A>C | ||
| NM_152336.3:c.2556-1952A>C | NP_689549.3:n.2556-1952A>C | |
| XM_011521226.3:c.2556-1952A>C | XP_011519528.1:n.2556-1952A>C | |
| XM_011521227.3:c.2556-1952A>C | XP_011519529.1:n.2556-1952A>C | |
| XM_017021918.2:c.2523-1952A>C | XP_016877407.1:n.2523-1952A>C | |
| XM_017021919.2:c.2472-1952A>C | XP_016877408.1:n.2472-1952A>C | |
| XR_931750.3:n.2745-1952A>C | ||
| NM_152336.4:c.2556-1952A>C | NP_689549.3:n.2556-1952A>C | |
| NM_001386094.1:c.2556-1952A>C MANE Select | NP_001373023.1:n.2556-1952A>C |