Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119222424A>T , CM000671.2:g.119222424A>T | GRCh38 |
| NC_000009.11:g.121984702A>T , CM000671.1:g.121984702A>T | GRCh37 |
| NC_000009.10:g.121024523A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265922.8:c.686-8269T>A MANE Select | ENSP00000265922.2:n.686-8269T>A | |
| ENST00000265922.7:c.686-8269T>A | ENSP00000265922.2:n.686-8269T>A | |
| ENST00000373964.2:c.686-8269T>A | ENSP00000363075.1:n.686-8269T>A | |
| NM_014618.2:c.686-8269T>A | NP_055433.2:n.686-8269T>A | |
| NM_014618.3:c.686-8269T>A MANE Select | NP_055433.2:n.686-8269T>A |