Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543504C>T , CM000669.2:g.21543504C>T | GRCh38 |
| NC_000007.13:g.21583122C>T , CM000669.1:g.21583122C>T | GRCh37 |
| NC_000007.12:g.21549647C>T | NCBI36 |
| NG_012886.2:g.5290C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.259C>T MANE Select | NP_001264044.1:p.Arg87Trp |
| ENST00000409508.8:c.259C>T MANE Select | ENSP00000475939.1:p.Arg87Trp |
| NM_001277115.1:c.259C>T | NP_001264044.1:p.Arg87Trp |
| ENST00000328843.10:c.259C>T | ENSP00000330671.7:p.Arg87Trp |
| ENST00000409508.7:c.259C>T | ENSP00000475939.1:p.Arg87Trp |
| ENST00000607050.1:n.59C>T | |
| ENST00000620169.4:c.259C>T | ENSP00000481693.1:p.Arg87Trp |