Linked Data
dbSNP Id:
rs1326056931
gnomAD v2:
1-179323451-A-T
gnomAD v3:
1-179354316-A-T
gnomAD v4:
1-179354316-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179354316A>T , CM000663.2:g.179354316A>T | GRCh38 |
| NC_000001.10:g.179323451A>T , CM000663.1:g.179323451A>T | GRCh37 |
| NC_000001.9:g.177590074A>T | NCBI36 |
| NG_030638.1:g.65603A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367619.8:c.*675A>T MANE Select | ENSP00000356591.3:n.*675A>T | |
| ENST00000367619.7:c.*675A>T | ENSP00000356591.3:n.*675A>T | |
| ENST00000539888.5:c.*675A>T | ENSP00000441356.1:n.*675A>T | |
| ENST00000540564.5:c.*675A>T | ENSP00000445315.1:n.*675A>T | |
| NM_001252511.1:c.*675A>T | NP_001239440.1:n.*675A>T | |
| NM_001252512.1:c.*675A>T | NP_001239441.1:n.*675A>T | |
| NM_003101.5:c.*675A>T | NP_003092.4:n.*675A>T | |
| NR_045530.1:n.2478A>T | ||
| XM_011509911.1:c.*675A>T | XP_011508213.1:n.*675A>T | |
| NM_003101.6:c.*675A>T MANE Select | NP_003092.4:n.*675A>T | |
| NR_045530.2:n.2395A>T | ||
| NM_001252511.2:c.*675A>T | NP_001239440.1:n.*675A>T | |
| NM_001252512.2:c.*675A>T | NP_001239441.1:n.*675A>T |