HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050669T>G , CM000664.2:g.189050669T>G | GRCh38 |
NC_000002.11:g.189915395T>G , CM000664.1:g.189915395T>G | GRCh37 |
NC_000002.10:g.189623640T>G | NCBI36 |
NG_011799.1:g.134211A>C | |
NG_011799.2:g.134211A>C | |
NG_011799.3:g.179633A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2939A>C MANE Select | ENSP00000364000.3:p.Asp980Ala | |
ENST00000374866.7:c.2939A>C | ENSP00000364000.3:p.Asp980Ala | |
ENST00000618828.1:c.1778A>C | ENSP00000482184.1:p.Asp593Ala | |
NM_000393.3:c.2939A>C | NP_000384.2:p.Asp980Ala | |
XM_011510573.1:c.2801A>C | XP_011508875.1:p.Asp934Ala | |
NM_000393.4:c.2939A>C | NP_000384.2:p.Asp980Ala | |
XM_011510573.3:c.2801A>C | XP_011508875.1:p.Asp934Ala | |
NM_000393.5:c.2939A>C MANE Select | NP_000384.2:p.Asp980Ala |