HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420634T>G , CM000666.2:g.99420634T>G | GRCh38 |
NC_000004.11:g.100341791T>G , CM000666.1:g.100341791T>G | GRCh37 |
NC_000004.10:g.100560814T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.724A>C MANE Select | ENSP00000414254.2:p.Ser242Arg | |
ENST00000209665.8:c.760A>C | ENSP00000209665.4:p.Ser254Arg | |
ENST00000437033.6:c.724A>C | ENSP00000414254.2:p.Ser242Arg | |
ENST00000476959.5:c.784A>C | ENSP00000420269.1:p.Ser262Arg | |
ENST00000482593.5:c.553A>C | ENSP00000420613.1:p.Ser185Arg | |
NM_000673.4:c.760A>C | NP_000664.2:p.Ser254Arg | |
NM_001166504.1:c.784A>C | NP_001159976.1:p.Ser262Arg | |
NM_000673.7:c.724A>C MANE Select | NP_000664.3:p.Ser242Arg | |
NM_001166504.2:c.784A>C | NP_001159976.1:p.Ser262Arg |