dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134368146T>A , CM000671.2:g.134368146T>A | GRCh38 |
| NC_000009.11:g.137259992T>A , CM000671.1:g.137259992T>A | GRCh37 |
| NC_000009.10:g.136399813T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.29-33486T>A MANE Select | ENSP00000419692.1:n.29-33486T>A | |
| ENST00000481739.1:c.29-33486T>A | ENSP00000419692.1:n.29-33486T>A | |
| ENST00000484822.1:n.453-33486T>A | ||
| NM_002957.5:c.29-33486T>A | NP_002948.1:n.29-33486T>A | |
| NM_002957.6:c.29-33486T>A MANE Select | NP_002948.1:n.29-33486T>A |