Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041909C>T , CM000674.2:g.56041909C>T | GRCh38 |
| NC_000012.11:g.56435693C>T , CM000674.1:g.56435693C>T | GRCh37 |
| NC_000012.10:g.54721960C>T | NCBI36 |
| NG_023201.1:g.5008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-258C>T | ENSP00000348849.5:n.-258C>T | |
| ENST00000356464.9:c.-258C>T | ENSP00000348849.5:n.-258C>T | |
| ENST00000552361.1:c.-190C>T | ENSP00000450339.1:n.-190C>T | |
| NM_001029.3:c.-258C>T | NP_001020.2:n.-258C>T | |
| XR_944989.3:n.95G>A | ||
| XR_944990.3:n.95G>A |