Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838409C>A , CM000664.2:g.182838409C>A | GRCh38 |
| NC_000002.11:g.183703137C>A , CM000664.1:g.183703137C>A | GRCh37 |
| NC_000002.10:g.183411382C>A | NCBI36 |
| NG_017197.1:g.33362G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.797G>T MANE Select | ENSP00000295113.4:p.Arg266Ile | |
| ENST00000295113.4:c.797G>T | ENSP00000295113.4:p.Arg266Ile | |
| NM_001463.3:c.797G>T | NP_001454.2:p.Arg266Ile | |
| NM_001463.4:c.797G>T MANE Select | NP_001454.2:p.Arg266Ile |