HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763681A>C , CM000674.2:g.57763681A>C | GRCh38 |
NC_000012.11:g.58157464A>C , CM000674.1:g.58157464A>C | GRCh37 |
NC_000012.10:g.56443731A>C | NCBI36 |
NG_007076.1:g.8513T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1424T>G | ENSP00000518840.1:p.Phe475Cys | |
ENST00000713545.1:c.*348T>G | ENSP00000518841.1:n.*348T>G | |
ENST00000228606.9:c.1343T>G MANE Select | ENSP00000228606.4:p.Phe448Cys | |
ENST00000228606.8:c.1343T>G | ENSP00000228606.4:p.Phe448Cys | |
ENST00000547344.5:n.1482T>G | ||
NM_000785.3:c.1343T>G | NP_000776.1:p.Phe448Cys | |
NM_000785.4:c.1343T>G MANE Select | NP_000776.1:p.Phe448Cys |