Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26599609G>A , CM000684.2:g.26599609G>A | GRCh38 |
| NC_000022.10:g.26995573G>A , CM000684.1:g.26995573G>A | GRCh37 |
| NC_000022.9:g.25325573G>A | NCBI36 |
| NG_009826.1:g.23419C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001887.4:c.640C>T MANE Select | NP_001878.1:p.Arg214Trp |
| ENST00000647684.1:c.640C>T MANE Select | ENSP00000497249.1:p.Arg214Trp |
| NM_001887.3:c.640C>T | NP_001878.1:p.Arg214Trp |
| ENST00000215939.2:c.640C>T | ENSP00000215939.2:p.Arg214Trp |
| XM_011529899.1:c.640C>T | XP_011528201.1:p.Arg214Trp |
| XM_011529899.3:c.640C>T | XP_011528201.1:p.Arg214Trp |