Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46705483C>T , CM000673.2:g.46705483C>T | GRCh38 |
| NC_000011.9:g.46727033C>T , CM000673.1:g.46727033C>T | GRCh37 |
| NC_000011.8:g.46683609C>T | NCBI36 |
| NG_052967.1:g.9717C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024741.3:c.1783C>T MANE Select | NP_079017.1:p.Arg595Trp |
| ENST00000311764.3:c.1783C>T MANE Select | ENSP00000309606.2:p.Arg595Trp |
| NM_001184751.1:c.1759C>T | NP_001171680.1:p.Arg587Trp |
| NM_001184751.2:c.1759C>T | NP_001171680.1:p.Arg587Trp |
| NM_024741.2:c.1783C>T | NP_079017.1:p.Arg595Trp |
| ENST00000311764.2:c.1783C>T | ENSP00000309606.2:p.Arg595Trp |