HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624257T>G , CM000679.2:g.41624257T>G | GRCh38 |
NC_000017.10:g.39780509T>G , CM000679.1:g.39780509T>G | GRCh37 |
NC_000017.9:g.37034035T>G | NCBI36 |
NG_008625.1:g.5374A>C | |
NG_009090.2:g.167456A>C , LRG_401:g.167456A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.253A>C MANE Select | ENSP00000308452.8:p.Lys85Gln | |
ENST00000311208.12:c.253A>C | ENSP00000308452.8:p.Lys85Gln | |
ENST00000463128.5:c.-312-51A>C | ENSP00000468672.1:n.-312-51A>C | |
ENST00000491673.1:n.319A>C | ||
ENST00000493253.5:n.40A>C | ||
ENST00000540235.5:c.48A>C | ENSP00000441751.2:p.Arg16Ser | |
ENST00000577817.3:c.208A>C | ENSP00000467418.1:p.Lys70Gln | |
NM_000422.2:c.253A>C | NP_000413.1:p.Lys85Gln | |
NM_000422.3:c.253A>C MANE Select | NP_000413.1:p.Lys85Gln |