HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014192T>C , CM000663.2:g.1014192T>C | GRCh38 |
NC_000001.10:g.949572T>C , CM000663.1:g.949572T>C | GRCh37 |
NC_000001.9:g.939435T>C | NCBI36 |
NG_033033.1:g.5726T>C | |
NG_033033.2:g.18055T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.188T>C | ENSP00000485643.1:p.Val63Ala | |
ENST00000649529.1:c.212T>C MANE Select | ENSP00000496832.1:p.Val71Ala | |
ENST00000379389.4:c.212T>C | ENSP00000368699.4:p.Val71Ala | |
ENST00000624652.1:c.188T>C | ENSP00000485313.1:p.Val63Ala | |
ENST00000624697.3:c.188T>C | ENSP00000485643.1:p.Val63Ala | |
NM_005101.3:c.212T>C | NP_005092.1:p.Val71Ala | |
NM_005101.4:c.212T>C MANE Select | NP_005092.1:p.Val71Ala |