HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942987G>C , CM000678.2:g.67942987G>C | GRCh38 |
NC_000016.9:g.67976890G>C , CM000678.1:g.67976890G>C | GRCh37 |
NC_000016.8:g.66534391G>C | NCBI36 |
NG_009778.1:g.6126C>G | |
NG_033098.1:g.30708C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.312-11C>G MANE Select | ENSP00000264005.5:n.312-11C>G | |
ENST00000264005.9:c.312-11C>G | ENSP00000264005.5:n.312-11C>G | |
ENST00000570369.5:c.40-11C>G | ||
ENST00000570980.1:c.96-11C>G | ENSP00000464651.1:n.96-11C>G | |
ENST00000575277.1:n.90-11C>G | ||
ENST00000575467.5:c.*7-11C>G | ENSP00000460653.1:n.*7-11C>G | |
NM_000229.1:c.312-11C>G | NP_000220.1:n.312-11C>G | |
NM_000229.2:c.312-11C>G MANE Select | NP_000220.1:n.312-11C>G |