dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74005424A>T , CM000673.2:g.74005424A>T | GRCh38 |
| NC_000011.9:g.73716469A>T , CM000673.1:g.73716469A>T | GRCh37 |
| NC_000011.8:g.73394117A>T | NCBI36 |
| NG_011515.1:g.8814T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.541+306T>A MANE Select | ENSP00000323740.4:n.541+306T>A | |
| ENST00000314032.8:c.541+306T>A | ENSP00000323740.4:n.541+306T>A | |
| ENST00000426995.2:c.541+306T>A | ENSP00000392143.2:n.541+306T>A | |
| NM_003356.3:c.541+306T>A | NP_003347.1:n.541+306T>A | |
| NM_022803.2:c.541+306T>A | NP_073714.1:n.541+306T>A | |
| XR_950298.1:n.1768+9390A>T | ||
| NM_003356.4:c.541+306T>A MANE Select | NP_003347.1:n.541+306T>A | |
| NM_022803.3:c.541+306T>A | NP_073714.1:n.541+306T>A |