Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644298C>A , CM000671.2:g.133644298C>A | GRCh38 |
| NC_000009.11:g.136509420C>A , CM000671.1:g.136509420C>A | GRCh37 |
| NC_000009.10:g.135499241C>A | NCBI36 |
| NG_008645.1:g.12936C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1002C>A MANE Select | NP_000778.3:p.Tyr334Ter |
| ENST00000393056.8:c.1002C>A MANE Select | ENSP00000376776.2:p.Tyr334Ter |
| NM_000787.3:c.1002C>A | NP_000778.3:p.Tyr334Ter |
| ENST00000393056.6:c.1002C>A | ENSP00000376776.2:p.Tyr334Ter |