Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041901G>T , CM000674.2:g.56041901G>T | GRCh38 |
| NC_000012.11:g.56435685G>T , CM000674.1:g.56435685G>T | GRCh37 |
| NC_000012.10:g.54721952G>T | NCBI36 |
| NG_023201.1:g.5000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-266G>T | ENSP00000348849.5:n.-266G>T | |
| ENST00000356464.9:c.-266G>T | ENSP00000348849.5:n.-266G>T | |
| ENST00000552361.1:c.-198G>T | ENSP00000450339.1:n.-198G>T | |
| XR_944989.3:n.103C>A | ||
| XR_944990.3:n.103C>A |