HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225647T>C , CM000673.2:g.5225647T>C | GRCh38 |
NC_000011.9:g.5246877T>C , CM000673.1:g.5246877T>C | GRCh37 |
NC_000011.8:g.5203453T>C | NCBI36 |
NG_000007.3:g.71969A>G | |
NG_059281.1:g.6425A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.395A>G | ENSP00000494175.1:p.Gln132Arg | |
ENST00000335295.4:c.395A>G MANE Select | ENSP00000333994.3:p.Gln132Arg | |
ENST00000633227.1:c.*211A>G | ENSP00000488004.1:n.*211A>G | |
NM_000518.4:c.395A>G | NP_000509.1:p.Gln132Arg | |
NM_000518.5:c.395A>G MANE Select | NP_000509.1:p.Gln132Arg |