HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475142C>A , CM000684.2:g.32475142C>A | GRCh38 |
NC_000022.10:g.32871129C>A , CM000684.1:g.32871129C>A | GRCh37 |
NC_000022.9:g.31201129C>A | NCBI36 |
NG_016001.1:g.5423C>A | |
NG_016001.2:g.5423C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.122+18C>A MANE Select | ENSP00000266087.7:n.122+18C>A | |
ENST00000266087.11:c.122+18C>A | ENSP00000266087.7:n.122+18C>A | |
ENST00000420700.5:c.122+18C>A | ENSP00000406155.1:n.122+18C>A | |
ENST00000425028.5:c.122+18C>A | ENSP00000395823.1:n.122+18C>A | |
ENST00000492535.1:n.110+18C>A | ||
NM_012179.3:c.122+18C>A | NP_036311.3:n.122+18C>A | |
XM_011530106.1:c.-52+18C>A | XP_011528408.1:n.-52+18C>A | |
XM_024452207.1:c.-69+18C>A | XP_024307975.1:n.-69+18C>A | |
NM_012179.4:c.122+18C>A MANE Select | NP_036311.3:n.122+18C>A |