dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.57073697T>A , CM000666.2:g.57073697T>A | GRCh38 |
| NC_000004.11:g.57939863T>A , CM000666.1:g.57939863T>A | GRCh37 |
| NC_000004.10:g.57634620T>A | NCBI36 |
| NG_031877.1:g.41689A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295666.6:c.476-32764A>T MANE Select | ENSP00000295666.4:n.476-32764A>T | |
| ENST00000514062.2:c.476-32764A>T | ENSP00000486293.1:n.476-32764A>T | |
| NM_001253835.1:c.476-32764A>T | NP_001240764.1:n.476-32764A>T | |
| NM_001553.2:c.476-32764A>T | NP_001544.1:n.476-32764A>T | |
| NM_001553.3:c.476-32764A>T MANE Select | NP_001544.1:n.476-32764A>T | |
| NM_001253835.2:c.476-32764A>T | NP_001240764.1:n.476-32764A>T |