Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192810432G>A , CM000663.2:g.192810432G>A | GRCh38 |
| NC_000001.10:g.192779562G>A , CM000663.1:g.192779562G>A | GRCh37 |
| NC_000001.9:g.191046185G>A | NCBI36 |
| NG_012800.1:g.6394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.274+1G>A MANE Select | ENSP00000235382.5:n.274+1G>A | |
| ENST00000235382.6:c.274+1G>A | ENSP00000235382.5:n.274+1G>A | |
| ENST00000464302.1:n.406+1G>A | ||
| ENST00000483295.1:n.410G>A | ||
| ENST00000487236.1:n.281+1G>A | ||
| NM_002923.3:c.274+1G>A | NP_002914.1:n.274+1G>A | |
| NM_002923.4:c.274+1G>A MANE Select | NP_002914.1:n.274+1G>A |