Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184913834T>A , CM000664.2:g.184913834T>A | GRCh38 |
| NC_000002.11:g.185778561T>A , CM000664.1:g.185778561T>A | GRCh37 |
| NC_000002.10:g.185486806T>A | NCBI36 |
| NG_046950.1:g.320469T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-19769T>A MANE Select | ENSP00000303252.6:n.256-19769T>A | |
| ENST00000302277.6:c.256-19769T>A | ENSP00000303252.6:n.256-19769T>A | |
| ENST00000613975.1:c.1-19769T>A | ENSP00000483032.1:n.1-19769T>A | |
| NM_194250.1:c.256-19769T>A | NP_919226.1:n.256-19769T>A | |
| NM_194250.2:c.256-19769T>A MANE Select | NP_919226.1:n.256-19769T>A |