HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29073585A>C , CM000664.2:g.29073585A>C | GRCh38 |
NC_000002.11:g.29296451A>C , CM000664.1:g.29296451A>C | GRCh37 |
NC_000002.10:g.29149955A>C | NCBI36 |
NG_021427.1:g.5677T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.677T>G MANE Select | ENSP00000332809.4:p.Phe226Cys | |
ENST00000331664.5:c.677T>G | ENSP00000332809.4:p.Phe226Cys | |
NM_001029883.2:c.677T>G | NP_001025054.1:p.Phe226Cys | |
XM_011532826.1:c.677T>G | XP_011531128.1:p.Phe226Cys | |
XR_939901.1:n.185+4418A>C | ||
XR_939902.1:n.173+4430A>C | ||
NM_001029883.3:c.677T>G MANE Select | NP_001025054.1:p.Phe226Cys |