HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022658A>C , CM000663.2:g.17022658A>C | GRCh38 |
NC_000001.10:g.17349153A>C , CM000663.1:g.17349153A>C | GRCh37 |
NC_000001.9:g.17221740A>C | NCBI36 |
NG_012340.1:g.36513T>G , LRG_316:g.36513T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.544T>G | ENSP00000481376.2:p.Ser182Ala | |
ENST00000491274.6:c.673T>G | ENSP00000480482.2:p.Ser225Ala | |
ENST00000375499.8:c.715T>G MANE Select | ENSP00000364649.3:p.Ser239Ala | |
ENST00000375499.7:c.715T>G | ENSP00000364649.3:p.Ser239Ala | |
ENST00000475049.5:n.140T>G | ||
ENST00000485092.5:n.379T>G | ||
ENST00000485515.5:n.649T>G | ||
NM_003000.2:c.715T>G , LRG_316t1:c.715T>G | NP_002991.2:p.Ser239Ala | |
NM_003000.3:c.715T>G MANE Select | NP_002991.2:p.Ser239Ala |