HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624231G>C , CM000679.2:g.41624231G>C | GRCh38 |
NC_000017.10:g.39780483G>C , CM000679.1:g.39780483G>C | GRCh37 |
NC_000017.9:g.37034009G>C | NCBI36 |
NG_008625.1:g.5400C>G | |
NG_009090.2:g.167482C>G , LRG_401:g.167482C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000311208.13:c.279C>G MANE Select | ENSP00000308452.8:p.Asp93Glu | |
ENST00000311208.12:c.279C>G | ENSP00000308452.8:p.Asp93Glu | |
ENST00000463128.5:c.-312-25C>G | ENSP00000468672.1:n.-312-25C>G | |
ENST00000491673.1:n.345C>G | ||
ENST00000493253.5:n.66C>G | ||
ENST00000540235.5:c.71+3C>G | ENSP00000441751.2:n.71+3C>G | |
ENST00000577817.3:c.234C>G | ENSP00000467418.1:p.Asp78Glu | |
NM_000422.2:c.279C>G | NP_000413.1:p.Asp93Glu | |
NM_000422.3:c.279C>G MANE Select | NP_000413.1:p.Asp93Glu |