HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29070740G>C , CM000664.2:g.29070740G>C | GRCh38 |
NC_000002.11:g.29293606G>C , CM000664.1:g.29293606G>C | GRCh37 |
NC_000002.10:g.29147110G>C | NCBI36 |
NG_021427.1:g.8522C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.3522C>G MANE Select | ENSP00000332809.4:p.Asp1174Glu | |
ENST00000331664.5:c.3522C>G | ENSP00000332809.4:p.Asp1174Glu | |
NM_001029883.2:c.3522C>G | NP_001025054.1:p.Asp1174Glu | |
XM_011532826.1:c.3522C>G | XP_011531128.1:p.Asp1174Glu | |
XR_939901.1:n.185+1573G>C | ||
XR_939902.1:n.173+1585G>C | ||
NM_001029883.3:c.3522C>G MANE Select | NP_001025054.1:p.Asp1174Glu |