Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114325784T>A , CM000671.2:g.114325784T>A | GRCh38 |
| NC_000009.11:g.117088064T>A , CM000671.1:g.117088064T>A | GRCh37 |
| NC_000009.10:g.116127885T>A | NCBI36 |
| NG_012108.1:g.7762T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000607.4:c.541-508T>A MANE Select | NP_000598.2:n.541-508T>A |
| ENST00000259396.9:c.541-508T>A MANE Select | ENSP00000259396.8:n.541-508T>A |
| NM_000607.2:c.541-508T>A | NP_000598.2:n.541-508T>A |
| NM_000607.3:c.541-508T>A | NP_000598.2:n.541-508T>A |
| ENST00000259396.8:c.541-508T>A | ENSP00000259396.8:n.541-508T>A |