Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271719A>T , CM000668.2:g.31271719A>T | GRCh38 |
| NC_000006.11:g.31239496A>T , CM000668.1:g.31239496A>T | GRCh37 |
| NC_000006.10:g.31347475A>T | NCBI36 |
| NG_029422.2:g.5413T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.223T>A MANE Select | ENSP00000365402.5:p.Trp75Arg | |
| ENST00000376228.9:c.223T>A | ENSP00000365402.5:p.Trp75Arg | |
| ENST00000376237.8:c.223T>A | ENSP00000365412.4:p.Trp75Arg | |
| ENST00000383329.7:c.223T>A | ENSP00000372819.3:p.Trp75Arg | |
| ENST00000415537.1:c.221T>A | ||
| ENST00000484378.1:n.242T>A | ||
| ENST00000487245.5:n.332T>A | ||
| ENST00000495835.1:n.412T>A | ||
| NM_002117.5:c.223T>A | NP_002108.4:p.Trp75Arg | |
| NM_002117.6:c.223T>A MANE Select | NP_002108.4:p.Trp75Arg |