HGVS | Genome Assembly |
---|---|
NC_000012.12:g.123630312G>T , CM000674.2:g.123630312G>T | GRCh38 |
NC_000012.11:g.124114859G>T , CM000674.1:g.124114859G>T | GRCh37 |
NC_000012.10:g.122680812G>T | NCBI36 |
NG_015862.1:g.8465C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000424014.7:c.253-27C>A MANE Select | ENSP00000416250.2:n.253-27C>A | |
ENST00000424014.6:c.253-27C>A | ENSP00000416250.2:n.253-27C>A | |
ENST00000452159.6:n.384-27C>A | ||
ENST00000534960.5:c.300-27C>A | ||
ENST00000537073.1:c.253-27C>A | ENSP00000444183.1:n.253-27C>A | |
ENST00000539951.5:c.214-27C>A | ENSP00000438060.1:n.214-27C>A | |
ENST00000543940.1:n.353-8C>A | ||
NM_001414.3:c.253-27C>A | NP_001405.1:n.253-27C>A | |
NM_001414.4:c.253-27C>A MANE Select | NP_001405.1:n.253-27C>A |