HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226173A>G , CM000673.2:g.5226173A>G | GRCh38 |
NC_000011.9:g.5247403A>G , CM000673.1:g.5247403A>G | GRCh37 |
NC_000011.8:g.5203979A>G | NCBI36 |
NG_000007.3:g.71443T>C | |
NG_059281.1:g.5899T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+404T>C | ENSP00000494175.1:n.315+404T>C | |
ENST00000335295.4:c.315+404T>C MANE Select | ENSP00000333994.3:n.315+404T>C | |
ENST00000475226.1:n.247+404T>C | ||
ENST00000633227.1:c.*131+404T>C | ENSP00000488004.1:n.*131+404T>C | |
NM_000518.4:c.315+404T>C | NP_000509.1:n.315+404T>C | |
NM_000518.5:c.315+404T>C MANE Select | NP_000509.1:n.315+404T>C |