Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929009G>T , CM000663.2:g.42929009G>T | GRCh38 |
| NC_000001.10:g.43394680G>T , CM000663.1:g.43394680G>T | GRCh37 |
| NC_000001.9:g.43167267G>T | NCBI36 |
| NG_008232.1:g.35168C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006516.4:c.997C>A MANE Select | NP_006507.2:p.Arg333= |
| ENST00000426263.10:c.997C>A MANE Select | ENSP00000416293.2:p.Arg333= |
| NM_006516.2:c.997C>A | NP_006507.2:p.Arg333= |
| NM_006516.3:c.997C>A | NP_006507.2:p.Arg333= |
| ENST00000426263.7:c.997C>A | ENSP00000416293.2:p.Arg333= |
| ENST00000475162.3:c.415+1617C>A | |
| ENST00000630287.2:c.*312C>A | ENSP00000486694.1:n.*312C>A |
| ENST00000674545.1:n.491C>A | |
| ENST00000674765.1:c.997C>A | ENSP00000501811.1:p.Arg333= |
| ENST00000675112.1:n.1298C>A | |
| ENST00000676254.1:n.1446C>A |