HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574034G>A , CM000685.2:g.47574034G>A | GRCh38 |
NC_000023.10:g.47433433G>A , CM000685.1:g.47433433G>A | GRCh37 |
NC_000023.9:g.47318377G>A | NCBI36 |
NG_008437.1:g.50824C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1950C>T MANE Select | ENSP00000295987.7:p.Ala650= | |
ENST00000340666.5:c.1950C>T | ENSP00000343206.4:p.Ala650= | |
ENST00000640721.1:c.70+654C>T | ENSP00000492857.1:n.70+654C>T | |
ENST00000295987.11:c.1950C>T | ENSP00000295987.7:p.Ala650= | |
ENST00000340666.4:c.1950C>T | ENSP00000343206.4:p.Ala650= | |
NM_006950.3:c.1950C>T MANE Select | NP_008881.2:p.Ala650= | |
NM_133499.2:c.1950C>T | NP_598006.1:p.Ala650= |