Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57228317G>A , CM000682.2:g.57228317G>A | GRCh38 |
| NC_000020.10:g.55803373G>A , CM000682.1:g.55803373G>A | GRCh37 |
| NC_000020.9:g.55236780G>A | NCBI36 |
| NG_032771.1:g.43335C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001719.3:c.523C>T MANE Select | NP_001710.1:p.Arg175Trp |
| ENST00000395863.8:c.523C>T MANE Select | ENSP00000379204.3:p.Arg175Trp |
| NM_001719.2:c.523C>T | NP_001710.1:p.Arg175Trp |
| ENST00000395863.7:c.523C>T | ENSP00000379204.3:p.Arg175Trp |
| ENST00000395864.7:c.523C>T | ENSP00000379205.3:p.Arg175Trp |
| ENST00000433911.1:c.179C>T | |
| ENST00000450594.6:c.523C>T | ENSP00000398687.2:p.Arg175Trp |
| ENST00000530870.1:n.276C>T |