Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441442A>T , CM000667.2:g.175441442A>T | GRCh38 |
| NC_000005.9:g.174868445A>T , CM000667.1:g.174868445A>T | GRCh37 |
| NC_000005.8:g.174801051A>T | NCBI36 |
| NG_011802.1:g.7719T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393752.3:c.*317T>A MANE Select | ENSP00000377353.1:n.*317T>A | |
| ENST00000393752.2:c.*317T>A | ENSP00000377353.1:n.*317T>A | |
| NM_000794.3:c.*317T>A | NP_000785.1:n.*317T>A | |
| NM_000794.4:c.*317T>A | NP_000785.1:n.*317T>A | |
| NM_000794.5:c.*317T>A MANE Select | NP_000785.1:n.*317T>A |