HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49878948T>G , CM000680.2:g.49878948T>G | GRCh38 |
NC_000018.9:g.47405318T>G , CM000680.1:g.47405318T>G | GRCh37 |
NC_000018.8:g.45659316T>G | NCBI36 |
NG_012925.1:g.321134A>C | |
NG_012925.2:g.321134A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697218.1:n.27A>C | ||
ENST00000697219.1:c.3070A>C | ||
ENST00000285039.12:c.3273A>C MANE Select | ENSP00000285039.6:p.Ile1091= | |
ENST00000285039.11:c.3273A>C | ENSP00000285039.6:p.Ile1091= | |
ENST00000324581.10:c.702A>C | ENSP00000315531.7:p.Ile234= | |
ENST00000589568.1:n.474A>C | ||
ENST00000616031.4:c.1907-42215A>C | ENSP00000479038.1:n.1907-42215A>C | |
NM_001080467.2:c.3273A>C | NP_001073936.1:p.Ile1091= | |
NM_001080467.3:c.3273A>C MANE Select | NP_001073936.1:p.Ile1091= |