Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.541368C>T , CM000681.2:g.541368C>T | GRCh38 |
| NC_000019.9:g.541368C>T , CM000681.1:g.541368C>T | GRCh37 |
| NC_000019.8:g.492368C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215574.9:c.527C>T MANE Select | ENSP00000215574.2:p.Ala176Val | |
| ENST00000215574.8:c.527C>T | ENSP00000215574.2:p.Ala176Val | |
| ENST00000586283.6:c.423C>T | ||
| ENST00000593036.4:n.66C>T | ||
| ENST00000606065.3:c.343C>T | ENSP00000475610.1:p.Arg115Trp | |
| ENST00000606400.3:n.225C>T | ||
| ENST00000607527.5:c.140C>T | ENSP00000476107.2:p.Ala47Val | |
| NM_004359.1:c.527C>T | NP_004350.1:p.Ala176Val | |
| XM_006722952.2:c.523C>T | XP_006723015.1:p.Arg175Trp | |
| NM_004359.2:c.527C>T MANE Select | NP_004350.1:p.Ala176Val |