Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103656020T>C , CM000666.2:g.103656020T>C | GRCh38 |
| NC_000004.11:g.104577177T>C , CM000666.1:g.104577177T>C | GRCh37 |
| NC_000004.10:g.104796626T>C | NCBI36 |
| NG_023344.1:g.68797A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001059.3:c.888+174A>G MANE Select | NP_001050.1:n.888+174A>G |
| ENST00000304883.3:c.888+174A>G MANE Select | ENSP00000303325.2:n.888+174A>G |
| NM_001059.2:c.888+174A>G | NP_001050.1:n.888+174A>G |
| ENST00000304883.2:c.888+174A>G | ENSP00000303325.2:n.888+174A>G |