Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121339035C>G , CM000669.2:g.121339035C>G | GRCh38 |
| NC_000007.13:g.120979089C>G , CM000669.1:g.120979089C>G | GRCh37 |
| NC_000007.12:g.120766325C>G | NCBI36 |
| NG_029242.1:g.18669C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057168.2:c.788C>G MANE Select | NP_476509.1:p.Thr263Arg |
| ENST00000222462.3:c.788C>G MANE Select | ENSP00000222462.2:p.Thr263Arg |
| NM_016087.2:c.758C>G | NP_057171.2:p.Thr253Arg |
| NM_057168.1:c.788C>G | NP_476509.1:p.Thr263Arg |
| ENST00000222462.2:c.788C>G | ENSP00000222462.2:p.Thr263Arg |
| ENST00000361301.6:c.758C>G | ENSP00000355065.2:p.Thr253Arg |