HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001282T>G , CM000674.2:g.107001282T>G | GRCh38 |
NC_000012.11:g.107395060T>G , CM000674.1:g.107395060T>G | GRCh37 |
NC_000012.10:g.105919190T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.682A>C MANE Select | ENSP00000008527.5:p.Lys228Gln | |
ENST00000008527.9:c.682A>C | ENSP00000008527.5:p.Lys228Gln | |
ENST00000546722.1:n.175A>C | ||
ENST00000552790.5:n.1241A>C | ||
NM_004075.4:c.682A>C | NP_004066.1:p.Lys228Gln | |
XM_011537939.1:c.598A>C | XP_011536241.1:p.Lys200Gln | |
XM_017018832.2:c.598A>C | XP_016874321.1:p.Lys200Gln | |
XM_024448844.1:c.682A>C | XP_024304612.1:p.Lys228Gln | |
XM_024448845.1:c.598A>C | XP_024304613.1:p.Lys200Gln | |
NM_004075.5:c.682A>C MANE Select | NP_004066.1:p.Lys228Gln |