Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12786160G>A , CM000686.2:g.12786160G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.3152-43G>A MANE Select | NP_004645.2:n.3152-43G>A |
| ENST00000338981.7:c.3152-43G>A MANE Select | ENSP00000342812.3:n.3152-43G>A |
| NM_004654.3:c.3152-43G>A | NP_004645.2:n.3152-43G>A |
| ENST00000426564.6:n.3164-43G>A | |
| ENST00000651177.1:c.3152-43G>A | ENSP00000498372.1:n.3152-43G>A |
| XM_011531469.1:c.3152-43G>A | XP_011529771.1:n.3152-43G>A |
| XM_011531470.1:c.2918-43G>A | XP_011529772.1:n.2918-43G>A |
| XM_017030078.2:c.3167-43G>A | XP_016885567.1:n.3167-43G>A |