Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94044697A>G , CM000663.2:g.94044697A>G | GRCh38 |
| NC_000001.10:g.94510253A>G , CM000663.1:g.94510253A>G | GRCh37 |
| NC_000001.9:g.94282841A>G | NCBI36 |
| NG_009073.1:g.81453T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2966T>C MANE Select | NP_000341.2:p.Val989Ala |
| ENST00000370225.4:c.2966T>C MANE Select | ENSP00000359245.3:p.Val989Ala |
| NM_000350.2:c.2966T>C | NP_000341.2:p.Val989Ala |
| ENST00000370225.3:c.2966T>C | ENSP00000359245.3:p.Val989Ala |
| ENST00000536513.5:c.-64-4608T>C | ENSP00000439707.2:n.-64-4608T>C |