HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529149A>G , CM000685.2:g.74529149A>G | GRCh38 |
NC_000023.10:g.73748984A>G , CM000685.1:g.73748984A>G | GRCh37 |
NC_000023.9:g.73665709A>G | NCBI36 |
NG_011641.1:g.112900A>G | |
NG_011641.2:g.112900A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.1171-64A>G MANE Select | ENSP00000465734.1:n.1171-64A>G | |
ENST00000636771.1:c.1080-64A>G | ||
ENST00000587091.5:c.1171-64A>G | ENSP00000465734.1:n.1171-64A>G | |
ENST00000590447.1:c.611-2184A>G | ||
NM_006517.4:c.1171-64A>G | NP_006508.2:n.1171-64A>G | |
XM_005262294.1:c.1171-2184A>G | XP_005262351.1:n.1171-2184A>G | |
NM_006517.5:c.1171-64A>G MANE Select | NP_006508.2:n.1171-64A>G |