Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134375539G>A , CM000671.2:g.134375539G>A | GRCh38 |
| NC_000009.11:g.137267385G>A , CM000671.1:g.137267385G>A | GRCh37 |
| NC_000009.10:g.136407206G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.29-26093G>A MANE Select | ENSP00000419692.1:n.29-26093G>A | |
| ENST00000356384.4:n.293+1409G>A | ||
| ENST00000481739.1:c.29-26093G>A | ENSP00000419692.1:n.29-26093G>A | |
| ENST00000484822.1:n.453-26093G>A | ||
| NM_002957.5:c.29-26093G>A | NP_002948.1:n.29-26093G>A | |
| NM_002957.6:c.29-26093G>A MANE Select | NP_002948.1:n.29-26093G>A |