Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033293A>G , CM000663.2:g.115033293A>G | GRCh38 |
| NC_000001.10:g.115575914A>G , CM000663.1:g.115575914A>G | GRCh37 |
| NC_000001.9:g.115377437A>G | NCBI36 |
| NG_015891.1:g.8500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-69A>G MANE Select | ENSP00000256592.1:n.-1-69A>G | |
| ENST00000256592.2:c.-1-69A>G | ENSP00000256592.1:n.-1-69A>G | |
| NM_000549.4:c.-1-69A>G | NP_000540.2:n.-1-69A>G | |
| XM_011542065.2:c.-70A>G | XP_011540367.1:n.-70A>G | |
| NM_000549.5:c.-1-69A>G MANE Select | NP_000540.2:n.-1-69A>G |