Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129912C>T , CM000667.2:g.179129912C>T | GRCh38 |
| NC_000005.9:g.178556913C>T , CM000667.1:g.178556913C>T | GRCh37 |
| NC_000005.8:g.178489519C>T | NCBI36 |
| NG_023212.2:g.220417G>A | |
| NG_023212.3:g.220417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2457+20G>A | ENSP00000514008.1:n.2457+20G>A | |
| ENST00000251582.12:c.2457+20G>A MANE Select | ENSP00000251582.7:n.2457+20G>A | |
| ENST00000518335.3:c.2457+20G>A | ENSP00000489888.2:n.2457+20G>A | |
| ENST00000251582.11:c.2457+20G>A | ENSP00000251582.7:n.2457+20G>A | |
| NM_014244.4:c.2457+20G>A | NP_055059.2:n.2457+20G>A | |
| NM_014244.5:c.2457+20G>A MANE Select | NP_055059.2:n.2457+20G>A |