Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37804407A>G , CM000663.2:g.37804407A>G | GRCh38 |
| NC_000001.10:g.38270079A>G , CM000663.1:g.38270079A>G | GRCh37 |
| NC_000001.9:g.38042666A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024640.4:c.662T>C MANE Select | NP_078916.3:p.Ile221Thr |
| ENST00000373044.3:c.662T>C MANE Select | ENSP00000362135.2:p.Ile221Thr |
| NM_024640.3:c.662T>C | NP_078916.3:p.Ile221Thr |
| ENST00000373044.2:c.662T>C | ENSP00000362135.2:p.Ile221Thr |