HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304619T>C , CM000663.2:g.152304619T>C | GRCh38 |
NC_000001.10:g.152277095T>C , CM000663.1:g.152277095T>C | GRCh37 |
NC_000001.9:g.150543719T>C | NCBI36 |
NG_016190.1:g.25585A>G , LRG_1028:g.25585A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.10267A>G MANE Select | ENSP00000357789.1:p.Arg3423Gly | |
ENST00000368799.1:c.10267A>G | ENSP00000357789.1:p.Arg3423Gly | |
NM_002016.1:c.10267A>G , LRG_1028t1:c.10267A>G | NP_002007.1:p.Arg3423Gly | |
XM_011509329.1:c.9109-786A>G | XP_011507631.1:n.9109-786A>G | |
NM_002016.2:c.10267A>G MANE Select | NP_002007.1:p.Arg3423Gly |