HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49878954G>A , CM000680.2:g.49878954G>A | GRCh38 |
NC_000018.9:g.47405324G>A , CM000680.1:g.47405324G>A | GRCh37 |
NC_000018.8:g.45659322G>A | NCBI36 |
NG_012925.1:g.321128C>T | |
NG_012925.2:g.321128C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697218.1:n.21C>T | ||
ENST00000697219.1:c.3064C>T | ||
ENST00000285039.12:c.3267C>T MANE Select | ENSP00000285039.6:p.Thr1089= | |
ENST00000285039.11:c.3267C>T | ENSP00000285039.6:p.Thr1089= | |
ENST00000324581.10:c.696C>T | ENSP00000315531.7:p.Thr232= | |
ENST00000589568.1:n.468C>T | ||
ENST00000616031.4:c.1907-42221C>T | ENSP00000479038.1:n.1907-42221C>T | |
NM_001080467.2:c.3267C>T | NP_001073936.1:p.Thr1089= | |
NM_001080467.3:c.3267C>T MANE Select | NP_001073936.1:p.Thr1089= |