Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17249833T>A , CM000663.2:g.17249833T>A | GRCh38 |
| NC_000001.10:g.17576328T>A , CM000663.1:g.17576328T>A | GRCh37 |
| NC_000001.9:g.17448915T>A | NCBI36 |
| NG_052788.1:g.5755T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016233.2:c.92+604T>A MANE Select | NP_057317.2:n.92+604T>A |
| ENST00000375460.3:c.92+604T>A MANE Select | ENSP00000364609.3:n.92+604T>A |
| XM_011541572.1:c.92+604T>A | XP_011539874.1:n.92+604T>A |
| XM_011541572.2:c.92+604T>A | XP_011539874.1:n.92+604T>A |