Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21894806G>A , CM000669.2:g.21894806G>A | GRCh38 |
| NC_000007.13:g.21934424G>A , CM000669.1:g.21934424G>A | GRCh37 |
| NC_000007.12:g.21900949G>A | NCBI36 |
| NG_012886.2:g.356592G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.12933+1G>A MANE Select | NP_001264044.1:n.12933+1G>A |
| ENST00000409508.8:c.12933+1G>A MANE Select | ENSP00000475939.1:n.12933+1G>A |
| NM_001277115.1:c.12933+1G>A | NP_001264044.1:n.12933+1G>A |
| ENST00000328843.10:c.12954+1G>A | ENSP00000330671.7:n.12954+1G>A |
| ENST00000409508.7:c.12933+1G>A | ENSP00000475939.1:n.12933+1G>A |
| ENST00000479878.1:n.227G>A | |
| ENST00000620169.4:c.12954+1G>A | ENSP00000481693.1:n.12954+1G>A |