HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942977C>T , CM000678.2:g.67942977C>T | GRCh38 |
NC_000016.9:g.67976880C>T , CM000678.1:g.67976880C>T | GRCh37 |
NC_000016.8:g.66534381C>T | NCBI36 |
NG_009778.1:g.6136G>A | |
NG_033098.1:g.30718G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.312-1G>A MANE Select | ENSP00000264005.5:n.312-1G>A | |
ENST00000264005.9:c.312-1G>A | ENSP00000264005.5:n.312-1G>A | |
ENST00000570369.5:c.40-1G>A | ||
ENST00000570980.1:c.96-1G>A | ENSP00000464651.1:n.96-1G>A | |
ENST00000575277.1:n.90-1G>A | ||
ENST00000575467.5:c.*7-1G>A | ENSP00000460653.1:n.*7-1G>A | |
NM_000229.1:c.312-1G>A | NP_000220.1:n.312-1G>A | |
NM_000229.2:c.312-1G>A MANE Select | NP_000220.1:n.312-1G>A |