HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787555G>C , CM000681.2:g.18787555G>C | GRCh38 |
NC_000019.9:g.18898364G>C , CM000681.1:g.18898364G>C | GRCh37 |
NC_000019.8:g.18759364G>C | NCBI36 |
NG_007070.1:g.8751C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1071C>G MANE Select | ENSP00000222271.2:p.Asp357Glu | |
ENST00000222271.6:c.1071C>G | ENSP00000222271.2:p.Asp357Glu | |
ENST00000425807.1:c.912C>G | ENSP00000403792.1:p.Asp304Glu | |
ENST00000542601.6:c.972C>G | ENSP00000439156.2:p.Asp324Glu | |
NM_000095.2:c.1071C>G | NP_000086.2:p.Asp357Glu | |
NM_000095.3:c.1071C>G MANE Select | NP_000086.2:p.Asp357Glu |