Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812145T>A , CM000663.2:g.192812145T>A | GRCh38 |
| NC_000001.10:g.192781275T>A , CM000663.1:g.192781275T>A | GRCh37 |
| NC_000001.9:g.191047898T>A | NCBI36 |
| NG_012800.1:g.8107T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*549T>A MANE Select | ENSP00000235382.5:n.*549T>A | |
| ENST00000235382.6:c.*549T>A | ENSP00000235382.5:n.*549T>A | |
| NM_002923.3:c.*549T>A | NP_002914.1:n.*549T>A | |
| NM_002923.4:c.*549T>A MANE Select | NP_002914.1:n.*549T>A |