Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100420008C>T , CM000674.2:g.100420008C>T | GRCh38 |
| NC_000012.11:g.100813786C>T , CM000674.1:g.100813786C>T | GRCh37 |
| NC_000012.10:g.99337917C>T | NCBI36 |
| NG_021175.1:g.67930C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.1619C>T MANE Select | NP_647480.1:p.Ala540Val |
| ENST00000323346.10:c.1619C>T MANE Select | ENSP00000316909.4:p.Ala540Val |
| NM_001145288.1:c.1469C>T | NP_001138760.1:p.Ala490Val |
| NM_001145288.2:c.1469C>T | NP_001138760.1:p.Ala490Val |
| NM_139319.2:c.1619C>T | NP_647480.1:p.Ala540Val |
| ENST00000323346.9:c.1619C>T | ENSP00000316909.4:p.Ala540Val |
| ENST00000392989.3:c.1469C>T | ENSP00000376715.3:p.Ala490Val |
| ENST00000552697.1:n.512C>T |