Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20653325A>T , CM000663.2:g.20653325A>T | GRCh38 |
| NC_000001.10:g.20979818A>T , CM000663.1:g.20979818A>T | GRCh37 |
| NC_000001.9:g.20852405A>T | NCBI36 |
| NG_008164.1:g.24871A>T | |
| NG_032064.1:g.13220T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005216.5:c.942+302T>A MANE Select | NP_005207.3:n.942+302T>A |
| ENST00000602624.7:c.942+302T>A MANE Select | ENSP00000473655.2:n.942+302T>A |
| NM_005216.4:c.993+302T>A | NP_005207.2:n.993+302T>A |
| ENST00000375048.7:c.993+302T>A | ENSP00000364188.3:n.993+302T>A |
| ENST00000415136.6:c.993+302T>A | ENSP00000399457.3:n.993+302T>A |
| ENST00000602624.6:c.942+302T>A | ENSP00000473655.1:n.942+302T>A |