HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21002211T>C , CM000664.2:g.21002211T>C | GRCh38 |
NC_000002.11:g.21225083T>C , CM000664.1:g.21225083T>C | GRCh37 |
NC_000002.10:g.21078588T>C | NCBI36 |
NG_011793.1:g.46863A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.13211A>G MANE Select | ENSP00000233242.1:p.Glu4404Gly | |
ENST00000616098.4:c.13209A>G | ENSP00000477990.1:n.13209A>G | |
NM_000384.2:c.13211A>G | NP_000375.2:p.Glu4404Gly | |
XM_011532809.1:c.5870-2938A>G | XP_011531111.1:n.5870-2938A>G | |
NM_000384.3:c.13211A>G MANE Select | NP_000375.3:p.Glu4404Gly |