HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104850088C>A , CM000672.2:g.104850088C>A | GRCh38 |
NC_000010.10:g.106609846C>A , CM000672.1:g.106609846C>A | GRCh37 |
NC_000010.9:g.106599836C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369701.8:c.695+7229C>A MANE Select | ENSP00000358715.3:n.695+7229C>A | |
ENST00000369699.8:c.695+7229C>A | ENSP00000358713.5:n.695+7229C>A | |
ENST00000369701.7:c.695+7229C>A | ENSP00000358715.3:n.695+7229C>A | |
NM_014978.2:c.695+7229C>A | NP_055793.1:n.695+7229C>A | |
XM_011539541.1:c.695+7229C>A | XP_011537843.1:n.695+7229C>A | |
NM_014978.3:c.695+7229C>A MANE Select | NP_055793.1:n.695+7229C>A |