Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96896746G>T , CM000668.2:g.96896746G>T | GRCh38 |
| NC_000006.11:g.97344622G>T , CM000668.1:g.97344622G>T | GRCh37 |
| NC_000006.10:g.97451343G>T | NCBI36 |
| NG_013379.1:g.6146C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.238C>A MANE Select | ENSP00000358272.4:p.Gln80Lys | |
| ENST00000316149.7:c.238C>A | ENSP00000358272.4:p.Gln80Lys | |
| ENST00000478382.1:n.173C>A | ||
| ENST00000489477.1:n.311C>A | ||
| NM_014165.3:c.238C>A | NP_054884.1:p.Gln80Lys | |
| NM_014165.4:c.238C>A MANE Select | NP_054884.1:p.Gln80Lys |