Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452473A>G , CM000667.2:g.119452473A>G | GRCh38 |
| NC_000005.9:g.118788168A>G , CM000667.1:g.118788168A>G | GRCh37 |
| NC_000005.8:g.118816067A>G | NCBI36 |
| NG_008182.1:g.5021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683936.1:c.-103A>G | ENSP00000507721.1:n.-103A>G | |
| ENST00000256216.10:c.-103A>G | ENSP00000256216.6:n.-103A>G | |
| ENST00000511186.5:n.1A>G | ||
| NM_000414.3:c.-103A>G | NP_000405.1:n.-103A>G | |
| NM_001199292.1:c.-103A>G | NP_001186221.1:n.-103A>G | |
| NM_001292027.1:c.-240A>G | NP_001278956.1:n.-240A>G |