HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102867309A>G , CM000673.2:g.102867309A>G | GRCh38 |
NC_000011.9:g.102738040A>G , CM000673.1:g.102738040A>G | GRCh37 |
NC_000011.8:g.102243250A>G | NCBI36 |
NG_032936.1:g.12726T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000571244.3:c.872T>C MANE Select | ENSP00000458585.1:p.Val291Ala | |
ENST00000571244.2:c.872T>C | ENSP00000458585.1:p.Val291Ala | |
NM_002426.4:c.872T>C | NP_002417.2:p.Val291Ala | |
NM_002426.5:c.872T>C | NP_002417.2:p.Val291Ala | |
NM_002426.6:c.872T>C MANE Select | NP_002417.2:p.Val291Ala |