Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130552T>A , CM000663.2:g.160130552T>A | GRCh38 |
| NC_000001.10:g.160100342T>A , CM000663.1:g.160100342T>A | GRCh37 |
| NC_000001.9:g.158366966T>A | NCBI36 |
| NG_008014.1:g.19795T>A , LRG_6:g.19795T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1782T>A MANE Select | ENSP00000354490.3:p.Ala594= | |
| ENST00000361216.7:c.1782T>A | ENSP00000354490.3:p.Ala594= | |
| ENST00000392233.7:c.1782T>A | ENSP00000376066.3:p.Ala594= | |
| ENST00000447527.1:c.914T>A | ||
| ENST00000472488.5:n.1885T>A | ||
| NM_000702.3:c.1782T>A | NP_000693.1:p.Ala594= | |
| NM_000702.4:c.1782T>A MANE Select | NP_000693.1:p.Ala594= |