Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209652041T>C , CM000663.2:g.209652041T>C | GRCh38 |
| NC_000001.10:g.209825386T>C , CM000663.1:g.209825386T>C | GRCh37 |
| NC_000001.9:g.207892009T>C | NCBI36 |
| NG_007116.1:g.5435A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000228.3:c.-38+328A>G MANE Select | NP_000219.2:n.-38+328A>G |
| ENST00000356082.9:c.-38+328A>G MANE Select | ENSP00000348384.3:n.-38+328A>G |
| NM_000228.2:c.-38+328A>G | NP_000219.2:n.-38+328A>G |
| NM_001127641.1:c.-38+208A>G | NP_001121113.1:n.-38+208A>G |
| ENST00000356082.8:c.-38+328A>G | ENSP00000348384.3:n.-38+328A>G |
| ENST00000367030.7:c.-38+208A>G | ENSP00000355997.3:n.-38+208A>G |
| XM_017001272.2:c.-38+328A>G | XP_016856761.1:n.-38+328A>G |