HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228659G>C , CM000673.2:g.112228659G>C | GRCh38 |
NC_000011.9:g.112099382G>C , CM000673.1:g.112099382G>C | GRCh37 |
NC_000011.8:g.111604592G>C | NCBI36 |
NG_008743.1:g.7295G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280362.8:c.149G>C MANE Select | ENSP00000280362.3:p.Gly50Ala | |
ENST00000280362.7:c.149G>C | ENSP00000280362.3:p.Gly50Ala | |
ENST00000524931.1:c.-56G>C | ENSP00000434688.1:n.-56G>C | |
ENST00000525645.1:n.224G>C | ||
ENST00000525803.1:c.149G>C | ENSP00000431750.1:p.Gly50Ala | |
ENST00000528679.5:c.149G>C | ENSP00000435895.1:p.Gly50Ala | |
ENST00000531673.5:c.149G>C | ENSP00000433469.1:p.Gly50Ala | |
NM_000317.2:c.149G>C | NP_000308.1:p.Gly50Ala | |
NM_000317.3:c.149G>C MANE Select | NP_000308.1:p.Gly50Ala |