HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719576T>C , CM000678.2:g.88719576T>C | GRCh38 |
NC_000016.9:g.88785984T>C , CM000678.1:g.88785984T>C | GRCh37 |
NC_000016.8:g.87313485T>C | NCBI36 |
NG_042229.1:g.70645A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6469A>G MANE Select | ENSP00000301015.9:p.Lys2157Glu | |
ENST00000466823.3:c.495A>G | ||
ENST00000301015.13:c.6469A>G | ENSP00000301015.9:p.Lys2157Glu | |
ENST00000419505.5:c.235A>G | ENSP00000406358.1:p.Lys79Glu | |
ENST00000466823.2:c.495A>G | ||
ENST00000495568.7:n.710A>G | ||
ENST00000497793.2:n.624A>G | ||
NM_001142864.2:c.6469A>G | NP_001136336.2:p.Lys2157Glu | |
NM_001142864.3:c.6469A>G | NP_001136336.2:p.Lys2157Glu | |
NM_001142864.4:c.6469A>G MANE Select | NP_001136336.2:p.Lys2157Glu |