HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071288T>C , CM000664.2:g.29071288T>C | GRCh38 |
NC_000002.11:g.29294154T>C , CM000664.1:g.29294154T>C | GRCh37 |
NC_000002.10:g.29147658T>C | NCBI36 |
NG_021427.1:g.7974A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2974A>G MANE Select | ENSP00000332809.4:p.Arg992Gly | |
ENST00000331664.5:c.2974A>G | ENSP00000332809.4:p.Arg992Gly | |
NM_001029883.2:c.2974A>G | NP_001025054.1:p.Arg992Gly | |
XM_011532826.1:c.2974A>G | XP_011531128.1:p.Arg992Gly | |
XR_939901.1:n.185+2121T>C | ||
XR_939902.1:n.173+2133T>C | ||
NM_001029883.3:c.2974A>G MANE Select | NP_001025054.1:p.Arg992Gly |