Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665239T>C , CM000679.2:g.39665239T>C | GRCh38 |
| NC_000017.10:g.37821492T>C , CM000679.1:g.37821492T>C | GRCh37 |
| NC_000017.9:g.35075018T>C | NCBI36 |
| NG_008892.1:g.4894T>C , LRG_210:g.4894T>C | |
| NG_042278.1:g.2259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-121T>C | ENSP00000312624.2:n.-121T>C |