Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129875T>A , CM000667.2:g.179129875T>A | GRCh38 |
| NC_000005.9:g.178556876T>A , CM000667.1:g.178556876T>A | GRCh37 |
| NC_000005.8:g.178489482T>A | NCBI36 |
| NG_023212.2:g.220454A>T | |
| NG_023212.3:g.220454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2457+57A>T | ENSP00000514008.1:n.2457+57A>T | |
| ENST00000251582.12:c.2457+57A>T MANE Select | ENSP00000251582.7:n.2457+57A>T | |
| ENST00000518335.3:c.2457+57A>T | ENSP00000489888.2:n.2457+57A>T | |
| ENST00000251582.11:c.2457+57A>T | ENSP00000251582.7:n.2457+57A>T | |
| NM_014244.4:c.2457+57A>T | NP_055059.2:n.2457+57A>T | |
| NM_014244.5:c.2457+57A>T MANE Select | NP_055059.2:n.2457+57A>T |