HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49878951G>C , CM000680.2:g.49878951G>C | GRCh38 |
NC_000018.9:g.47405321G>C , CM000680.1:g.47405321G>C | GRCh37 |
NC_000018.8:g.45659319G>C | NCBI36 |
NG_012925.1:g.321131C>G | |
NG_012925.2:g.321131C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697218.1:n.24C>G | ||
ENST00000697219.1:c.3067C>G | ||
ENST00000285039.12:c.3270C>G MANE Select | ENSP00000285039.6:p.Ile1090Met | |
ENST00000285039.11:c.3270C>G | ENSP00000285039.6:p.Ile1090Met | |
ENST00000324581.10:c.699C>G | ENSP00000315531.7:p.Ile233Met | |
ENST00000589568.1:n.471C>G | ||
ENST00000616031.4:c.1907-42218C>G | ENSP00000479038.1:n.1907-42218C>G | |
NM_001080467.2:c.3270C>G | NP_001073936.1:p.Ile1090Met | |
NM_001080467.3:c.3270C>G MANE Select | NP_001073936.1:p.Ile1090Met |