HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940484G>T , CM000678.2:g.67940484G>T | GRCh38 |
NC_000016.9:g.67974387G>T , CM000678.1:g.67974387G>T | GRCh37 |
NC_000016.8:g.66531888G>T | NCBI36 |
NG_009778.1:g.8629C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.749-6C>A MANE Select | ENSP00000264005.5:n.749-6C>A | |
ENST00000264005.9:c.749-6C>A | ENSP00000264005.5:n.749-6C>A | |
ENST00000570369.5:c.156-410C>A | ||
ENST00000570980.1:c.533-6C>A | ENSP00000464651.1:n.533-6C>A | |
ENST00000573538.5:c.487-6C>A | ENSP00000463220.1:n.487-6C>A | |
NM_000229.1:c.749-6C>A | NP_000220.1:n.749-6C>A | |
NM_000229.2:c.749-6C>A MANE Select | NP_000220.1:n.749-6C>A |