Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150694205A>G , CM000667.2:g.150694205A>G | GRCh38 |
| NC_000005.9:g.150073767A>G , CM000667.1:g.150073767A>G | GRCh37 |
| NC_000005.8:g.150053960A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199814.9:c.782T>C MANE Select | ENSP00000199814.4:p.Ile261Thr | |
| ENST00000199814.8:c.782T>C | ENSP00000199814.4:p.Ile261Thr | |
| ENST00000447771.6:c.635T>C | ENSP00000412118.2:p.Ile212Thr | |
| ENST00000520132.1:n.629T>C | ||
| NM_018047.2:c.782T>C | NP_060517.1:p.Ile261Thr | |
| XR_001742145.2:n.1651T>C | ||
| NM_018047.3:c.782T>C MANE Select | NP_060517.1:p.Ile261Thr |