Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012573C>A , CM000679.2:g.8012573C>A | GRCh38 |
| NC_000017.10:g.7915891C>A , CM000679.1:g.7915891C>A | GRCh37 |
| NC_000017.9:g.7856616C>A | NCBI36 |
| NG_009092.1:g.14904C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2080C>A MANE Select | ENSP00000254854.4:p.Gln694Lys | |
| ENST00000254854.4:c.2080C>A | ENSP00000254854.4:p.Gln694Lys | |
| NM_000180.3:c.2080C>A | NP_000171.1:p.Gln694Lys | |
| XM_011523816.1:c.2080C>A | XP_011522118.1:p.Gln694Lys | |
| NM_000180.4:c.2080C>A MANE Select | NP_000171.1:p.Gln694Lys |