Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12814267G>A , CM000686.2:g.12814267G>A | GRCh38 |
| NC_000024.9:g.14926202G>A , CM000686.1:g.14926202G>A | GRCh37 |
| NC_000024.8:g.13435596G>A | NCBI36 |
| NG_008311.1:g.118043G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.4609+1215G>A MANE Select | NP_004645.2:n.4609+1215G>A |
| ENST00000338981.7:c.4609+1215G>A MANE Select | ENSP00000342812.3:n.4609+1215G>A |
| NM_004654.3:c.4609+1215G>A | NP_004645.2:n.4609+1215G>A |
| ENST00000426564.6:n.4621+1215G>A | |
| ENST00000651177.1:c.4609+1215G>A | ENSP00000498372.1:n.4609+1215G>A |
| XM_011531469.1:c.4609+1215G>A | XP_011529771.1:n.4609+1215G>A |
| XM_011531470.1:c.4375+1215G>A | XP_011529772.1:n.4375+1215G>A |
| XM_017030078.2:c.4624+1215G>A | XP_016885567.1:n.4624+1215G>A |