Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665236C>T , CM000679.2:g.39665236C>T | GRCh38 |
| NC_000017.10:g.37821489C>T , CM000679.1:g.37821489C>T | GRCh37 |
| NC_000017.9:g.35075015C>T | NCBI36 |
| NG_008892.1:g.4891C>T , LRG_210:g.4891C>T | |
| NG_042278.1:g.2256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-124C>T | ENSP00000312624.2:n.-124C>T |