HGVS | Genome Assembly |
---|---|
NC_000001.11:g.212895241A>G , CM000663.2:g.212895241A>G | GRCh38 |
NC_000001.10:g.213068583A>G , CM000663.1:g.213068583A>G | GRCh37 |
NC_000001.9:g.211135206A>G | NCBI36 |
NG_028131.1:g.41987A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366971.9:c.1619A>G MANE Select | ENSP00000355938.4:p.Gln540Arg | |
ENST00000366971.8:c.1619A>G | ENSP00000355938.4:p.Gln540Arg | |
ENST00000419102.1:c.1015A>G | ||
ENST00000483790.1:n.446A>G | ||
NM_014053.3:c.1619A>G | NP_054772.1:p.Gln540Arg | |
XM_011509446.1:c.1508A>G | XP_011507748.1:p.Gln503Arg | |
XR_247024.1:n.1793A>G | ||
XM_011509446.3:c.1508A>G | XP_011507748.1:p.Gln503Arg | |
XR_247024.3:n.1793A>G | ||
NM_014053.4:c.1619A>G MANE Select | NP_054772.1:p.Gln540Arg |