Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241848042C>T , CM000663.2:g.241848042C>T | GRCh38 |
| NC_000001.10:g.242011344C>T , CM000663.1:g.242011344C>T | GRCh37 |
| NC_000001.9:g.240077967C>T | NCBI36 |
| NG_029100.1:g.4852C>T | |
| NG_029100.2:g.4852C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000519225.5:c.-473C>T | ENSP00000429720.1:n.-473C>T |
| XM_011544322.1:c.-473C>T | XP_011542624.1:n.-473C>T |