HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763793A>C , CM000674.2:g.57763793A>C | GRCh38 |
NC_000012.11:g.58157576A>C , CM000674.1:g.58157576A>C | GRCh37 |
NC_000012.10:g.56443843A>C | NCBI36 |
NG_007076.1:g.8401T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1312T>G | ENSP00000518840.1:p.Cys438Gly | |
ENST00000713545.1:c.*236T>G | ENSP00000518841.1:n.*236T>G | |
ENST00000228606.9:c.1231T>G MANE Select | ENSP00000228606.4:p.Cys411Gly | |
ENST00000228606.8:c.1231T>G | ENSP00000228606.4:p.Cys411Gly | |
ENST00000547344.5:n.1370T>G | ||
NM_000785.3:c.1231T>G | NP_000776.1:p.Cys411Gly | |
NM_000785.4:c.1231T>G MANE Select | NP_000776.1:p.Cys411Gly |