Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418421A>G , CM000663.2:g.94418421A>G | GRCh38 |
| NC_000001.10:g.94883977A>G , CM000663.1:g.94883977A>G | GRCh37 |
| NC_000001.9:g.94656565A>G | NCBI36 |
| NG_008865.1:g.5045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-58A>G MANE Select | ENSP00000359233.4:n.-58A>G | |
| NM_001122674.1:c.-58A>G | NP_001116146.1:n.-58A>G | |
| NM_002858.3:c.-58A>G | NP_002849.1:n.-58A>G | |
| XM_006710802.2:c.-58A>G | XP_006710865.2:n.-58A>G | |
| NM_002858.4:c.-58A>G MANE Select | NP_002849.1:n.-58A>G | |
| NM_001122674.2:c.-58A>G | NP_001116146.1:n.-58A>G |