Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119322197C>T , CM000666.2:g.119322197C>T | GRCh38 |
| NC_000004.11:g.120243352C>T , CM000666.1:g.120243352C>T | GRCh37 |
| NC_000004.10:g.120462800C>T | NCBI36 |
| NG_011444.1:g.4965G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000274024.3:c.-95G>A | ENSP00000274024.3:n.-95G>A |