Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452452C>A , CM000667.2:g.119452452C>A | GRCh38 |
| NC_000005.9:g.118788147C>A , CM000667.1:g.118788147C>A | GRCh37 |
| NC_000005.8:g.118816046C>A | NCBI36 |
| NG_008182.1:g.5000C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256216.10:c.-124C>A | ENSP00000256216.6:n.-124C>A | |
| NM_000414.3:c.-124C>A | NP_000405.1:n.-124C>A | |
| NM_001199292.1:c.-124C>A | NP_001186221.1:n.-124C>A | |
| NM_001292027.1:c.-261C>A | NP_001278956.1:n.-261C>A |