Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97564115C>T , CM000671.2:g.97564115C>T | GRCh38 |
| NC_000009.11:g.100326397C>T , CM000671.1:g.100326397C>T | GRCh37 |
| NC_000009.10:g.99366218C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003275.4:c.565C>T MANE Select | NP_003266.1:p.Arg189Trp |
| ENST00000259365.9:c.565C>T MANE Select | ENSP00000259365.3:p.Arg189Trp |
| NM_001166116.1:c.565C>T | NP_001159588.1:p.Arg189Trp |
| NM_001166116.2:c.565C>T | NP_001159588.1:p.Arg189Trp |
| NM_003275.3:c.565C>T | NP_003266.1:p.Arg189Trp |
| ENST00000259365.8:c.565C>T | ENSP00000259365.3:p.Arg189Trp |
| ENST00000375175.1:c.184C>T | ENSP00000364318.1:p.Arg62Trp |
| ENST00000395211.6:c.565C>T | ENSP00000378637.2:p.Arg189Trp |
| XM_024447660.1:c.157C>T | XP_024303428.1:p.Arg53Trp |