HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675846A>C , CM000685.2:g.38675846A>C | GRCh38 |
NC_000023.10:g.38535100A>C , CM000685.1:g.38535100A>C | GRCh37 |
NC_000023.9:g.38420044A>C | NCBI36 |
NG_009160.1:g.119370A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.583A>C MANE Select | ENSP00000367743.2:p.Lys195Gln | |
ENST00000286824.6:c.634A>C | ENSP00000286824.6:p.Lys212Gln | |
ENST00000378482.6:c.583A>C | ENSP00000367743.2:p.Lys195Gln | |
ENST00000419600.3:n.527A>C | ||
ENST00000465127.1:c.673A>C | ENSP00000417050.1:p.Lys225Gln | |
ENST00000471410.5:c.*609A>C | ENSP00000419290.1:n.*609A>C | |
ENST00000475216.5:c.*576A>C | ENSP00000418586.1:n.*576A>C | |
NM_004615.3:c.583A>C | NP_004606.2:p.Lys195Gln | |
NM_004615.4:c.583A>C MANE Select | NP_004606.2:p.Lys195Gln |