Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.157833248C>A , CM000663.2:g.157833248C>A | GRCh38 |
| NC_000001.10:g.157803038C>A , CM000663.1:g.157803038C>A | GRCh37 |
| NC_000001.9:g.156069662C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005894.3:c.983G>T MANE Select | NP_005885.1:p.Arg328Ile |
| ENST00000368174.5:c.983G>T MANE Select | ENSP00000357156.4:p.Arg328Ile |
| NM_001347698.1:c.983G>T | NP_001334627.1:p.Arg328Ile |
| NM_001347698.2:c.983G>T | NP_001334627.1:p.Arg328Ile |
| NM_005894.2:c.983G>T | NP_005885.1:p.Arg328Ile |
| ENST00000368174.4:c.983G>T | ENSP00000357156.4:p.Arg328Ile |
| XM_005245602.1:c.983G>T | XP_005245659.1:p.Arg328Ile |
| XM_017002806.1:c.983G>T | XP_016858295.1:p.Arg328Ile |