Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060202C>A , CM000665.2:g.184060202C>A | GRCh38 |
| NC_000003.11:g.183777990C>A , CM000665.1:g.183777990C>A | GRCh37 |
| NC_000003.10:g.185260684C>A | NCBI36 |
| NG_012749.1:g.12156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1194C>A MANE Select | ENSP00000322617.1:p.Thr398= | |
| ENST00000318351.1:c.1194C>A | ENSP00000322617.1:p.Thr398= | |
| NM_130770.2:c.1194C>A | NP_570126.2:p.Thr398= | |
| NM_130770.3:c.1194C>A MANE Select | NP_570126.2:p.Thr398= |