Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12814549A>G , CM000686.2:g.12814549A>G | GRCh38 |
| NC_000024.9:g.14926484A>G , CM000686.1:g.14926484A>G | GRCh37 |
| NC_000024.8:g.13435878A>G | NCBI36 |
| NG_008311.1:g.118325A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.4609+1497A>G | ENSP00000498372.1:n.4609+1497A>G | |
| ENST00000338981.7:c.4609+1497A>G MANE Select | ENSP00000342812.3:n.4609+1497A>G | |
| ENST00000426564.6:n.4621+1497A>G | ||
| NM_004654.3:c.4609+1497A>G | NP_004645.2:n.4609+1497A>G | |
| XM_011531469.1:c.4609+1497A>G | XP_011529771.1:n.4609+1497A>G | |
| XM_011531470.1:c.4375+1497A>G | XP_011529772.1:n.4375+1497A>G | |
| XM_017030078.2:c.4624+1497A>G | XP_016885567.1:n.4624+1497A>G | |
| NM_004654.4:c.4609+1497A>G MANE Select | NP_004645.2:n.4609+1497A>G |