HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323066T>C , CM000667.2:g.159323066T>C | GRCh38 |
NC_000005.9:g.158750074T>C , CM000667.1:g.158750074T>C | GRCh37 |
NC_000005.8:g.158682652T>C | NCBI36 |
NG_009618.1:g.12408A>G , LRG_71:g.12408A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2546A>G | ENSP00000512849.1:n.-148-2546A>G | |
ENST00000696751.1:c.352A>G | ENSP00000512850.1:p.Lys118Glu | |
ENST00000231228.3:c.352A>G MANE Select | ENSP00000231228.2:p.Lys118Glu | |
ENST00000231228.2:c.352A>G | ENSP00000231228.2:p.Lys118Glu | |
NM_002187.2:c.352A>G , LRG_71t1:c.352A>G | NP_002178.2:p.Lys118Glu | |
XR_001742945.1:n.148-2468T>C | ||
NM_002187.3:c.352A>G MANE Select | NP_002178.2:p.Lys118Glu |