HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942860C>T , CM000678.2:g.67942860C>T | GRCh38 |
NC_000016.9:g.67976763C>T , CM000678.1:g.67976763C>T | GRCh37 |
NC_000016.8:g.66534264C>T | NCBI36 |
NG_009778.1:g.6253G>A | |
NG_033098.1:g.30835G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.427+1G>A MANE Select | ENSP00000264005.5:n.427+1G>A | |
ENST00000264005.9:c.427+1G>A | ENSP00000264005.5:n.427+1G>A | |
ENST00000570369.5:c.155+1G>A | ||
ENST00000570980.1:c.211+1G>A | ENSP00000464651.1:n.211+1G>A | |
ENST00000573538.5:c.70+1G>A | ENSP00000463220.1:n.70+1G>A | |
ENST00000573846.1:n.41+1G>A | ||
ENST00000575277.1:n.205+1G>A | ||
ENST00000575467.5:c.*122+1G>A | ENSP00000460653.1:n.*122+1G>A | |
NM_000229.1:c.427+1G>A | NP_000220.1:n.427+1G>A | |
NM_000229.2:c.427+1G>A MANE Select | NP_000220.1:n.427+1G>A |