HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226771T>C , CM000673.2:g.5226771T>C | GRCh38 |
NC_000011.9:g.5248001T>C , CM000673.1:g.5248001T>C | GRCh37 |
NC_000011.8:g.5204577T>C | NCBI36 |
NG_000007.3:g.70845A>G | |
NG_059281.1:g.5301A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.121A>G | ENSP00000494175.1:p.Arg41Gly | |
ENST00000335295.4:c.121A>G MANE Select | ENSP00000333994.3:p.Arg41Gly | |
ENST00000380315.2:c.121A>G | ENSP00000369671.2:p.Arg41Gly | |
ENST00000475226.1:n.53A>G | ||
ENST00000485743.1:n.172A>G | ||
ENST00000633227.1:c.105A>G | ENSP00000488004.1:p.Arg35= | |
NM_000518.4:c.121A>G | NP_000509.1:p.Arg41Gly | |
NM_000518.5:c.121A>G MANE Select | NP_000509.1:p.Arg41Gly |