Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782420C>A , CM000664.2:g.218782420C>A | GRCh38 |
| NC_000002.11:g.219647143C>A , CM000664.1:g.219647143C>A | GRCh37 |
| NC_000002.10:g.219355387C>A | NCBI36 |
| NG_007959.1:g.5672C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.238C>A MANE Select | ENSP00000258415.4:p.Gln80Lys | |
| ENST00000258415.8:c.238C>A | ENSP00000258415.4:p.Gln80Lys | |
| ENST00000445971.1:c.238C>A | ENSP00000404945.1:p.Gln80Lys | |
| ENST00000466602.1:n.247C>A | ||
| ENST00000494263.5:n.672C>A | ||
| NM_000784.3:c.238C>A | NP_000775.1:p.Gln80Lys | |
| XM_017003488.2:c.9C>A | XP_016858977.1:p.Cys3Ter | |
| NM_000784.4:c.238C>A MANE Select | NP_000775.1:p.Gln80Lys |