Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41860123C>T , CM000681.2:g.41860123C>T | GRCh38 |
| NC_000019.9:g.42364193C>T , CM000681.1:g.42364193C>T | GRCh37 |
| NC_000019.8:g.47056033C>T | NCBI36 |
| NG_007080.2:g.5206C>T | |
| NG_007080.3:g.5206C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001022.3:c.-167C>T | NP_001013.1:n.-167C>T |
| NM_001321485.1:c.-167C>T | NP_001308414.1:n.-167C>T |
| ENST00000598742.5:c.-167C>T | ENSP00000470972.1:n.-167C>T |