Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38076403T>C , CM000664.2:g.38076403T>C | GRCh38 |
| NC_000002.11:g.38303545T>C , CM000664.1:g.38303545T>C | GRCh37 |
| NC_000002.10:g.38157049T>C | NCBI36 |
| NG_008386.2:g.4699A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494864.1:c.-70-5093A>G | ENSP00000479876.1:n.-70-5093A>G | |
| XM_011533236.1:c.1017T>C | XP_011531538.1:p.Cys339= |