HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49622068A>C , CM000676.2:g.49622068A>C | GRCh38 |
NC_000014.8:g.50088786A>C , CM000676.1:g.50088786A>C | GRCh37 |
NC_000014.7:g.49158536A>C | NCBI36 |
NG_008920.1:g.6298A>C | |
NG_033054.1:g.3564T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.800A>C MANE Select | ENSP00000307423.2:p.Asp267Ala | |
ENST00000305386.3:c.800A>C | ENSP00000307423.2:p.Asp267Ala | |
NM_002408.3:c.800A>C | NP_002399.1:p.Asp267Ala | |
NM_002408.4:c.800A>C MANE Select | NP_002399.1:p.Asp267Ala |