Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001937G>A , CM000663.2:g.94001937G>A | GRCh38 |
| NC_000001.10:g.94467493G>A , CM000663.1:g.94467493G>A | GRCh37 |
| NC_000001.9:g.94240081G>A | NCBI36 |
| NG_009073.1:g.124213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6203C>T MANE Select | ENSP00000359245.3:p.Ala2068Val | |
| ENST00000370225.3:c.6203C>T | ENSP00000359245.3:p.Ala2068Val | |
| ENST00000465352.1:n.619C>T | ||
| ENST00000536513.5:c.2579C>T | ENSP00000439707.2:p.Ala860Val | |
| NM_000350.2:c.6203C>T | NP_000341.2:p.Ala2068Val | |
| NM_000350.3:c.6203C>T MANE Select | NP_000341.2:p.Ala2068Val |