Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461972C>T , CM000667.2:g.45461972C>T | GRCh38 |
| NC_000005.9:g.45462074C>T , CM000667.1:g.45462074C>T | GRCh37 |
| NC_000005.8:g.45497831C>T | NCBI36 |
| NG_042183.1:g.239147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.885G>A MANE Select | ENSP00000307342.4:p.Val295= | |
| ENST00000637305.1:n.48G>A | ||
| ENST00000673735.1:c.885G>A | ENSP00000501107.1:p.Val295= | |
| ENST00000303230.5:c.885G>A | ENSP00000307342.4:p.Val295= | |
| NM_021072.3:c.885G>A | NP_066550.2:p.Val295= | |
| NM_021072.4:c.885G>A MANE Select | NP_066550.2:p.Val295= |