HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572913T>G , CM000685.2:g.47572913T>G | GRCh38 |
NC_000023.10:g.47432312T>G , CM000685.1:g.47432312T>G | GRCh37 |
NC_000023.9:g.47317256T>G | NCBI36 |
NG_008437.1:g.51945A>C | |
NG_016339.1:g.16797T>G | |
NG_016339.2:g.16797T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2069A>C MANE Select | ENSP00000295987.7:p.Glu690Ala | |
ENST00000340666.5:c.*21A>C | ENSP00000343206.4:n.*21A>C | |
ENST00000640721.1:c.119A>C | ENSP00000492857.1:p.Glu40Ala | |
ENST00000295987.11:c.2069A>C | ENSP00000295987.7:p.Glu690Ala | |
ENST00000340666.4:c.*21A>C | ENSP00000343206.4:n.*21A>C | |
NM_006950.3:c.2069A>C MANE Select | NP_008881.2:p.Glu690Ala | |
NM_133499.2:c.*21A>C | NP_598006.1:n.*21A>C |