Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416093C>T , CM000667.2:g.96416093C>T | GRCh38 |
| NC_000005.9:g.95751797C>T , CM000667.1:g.95751797C>T | GRCh37 |
| NC_000005.8:g.95777553C>T | NCBI36 |
| NG_021161.1:g.22189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.649G>A MANE Select | ENSP00000308024.2:p.Ala217Thr | |
| ENST00000311106.7:c.649G>A | ENSP00000308024.2:p.Ala217Thr | |
| ENST00000508626.5:c.508G>A | ENSP00000421600.1:p.Ala170Thr | |
| NM_000439.4:c.649G>A | NP_000430.3:p.Ala217Thr | |
| NM_001177875.1:c.508G>A | NP_001171346.1:p.Ala170Thr | |
| NR_130776.1:n.354+36441C>T | ||
| NM_000439.5:c.649G>A MANE Select | NP_000430.3:p.Ala217Thr | |
| NM_001177875.2:c.508G>A | NP_001171346.1:p.Ala170Thr |