Linked Data
ClinVar Variation Id:
268099
dbSNP Id:
rs773902879
ExAC:
15:52416726 G / A
gnomAD v2:
15-52416726-G-A
gnomAD v3:
15-52124529-G-A
gnomAD v4:
15-52124529-G-A
PubMed:
PMID:27523599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52124529G>A , CM000677.2:g.52124529G>A | GRCh38 |
| NC_000015.9:g.52416726G>A , CM000677.1:g.52416726G>A | GRCh37 |
| NC_000015.8:g.50204018G>A | NCBI36 |
| NG_052868.1:g.71840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261837.12:c.1120C>T MANE Select | ENSP00000261837.7:p.Arg374Ter | |
| ENST00000261837.11:c.1120C>T | ENSP00000261837.7:p.Arg374Ter | |
| ENST00000358784.11:c.994C>T | ENSP00000351635.7:p.Arg332Ter | |
| ENST00000396335.8:c.784C>T | ENSP00000379626.4:p.Arg262Ter | |
| ENST00000557936.5:n.808C>T | ||
| ENST00000558519.5:c.617C>T | ENSP00000453339.1:n.617C>T | |
| ENST00000559348.5:n.1601C>T | ||
| ENST00000560085.1:n.959+635C>T | ||
| NM_006578.3:c.994C>T | NP_006569.1:p.Arg332Ter | |
| NM_016194.3:c.1120C>T | NP_057278.2:p.Arg374Ter | |
| XM_011521162.1:c.994C>T | XP_011519464.1:p.Arg332Ter | |
| XM_011521163.1:c.838C>T | XP_011519465.1:p.Arg280Ter | |
| XM_011521162.3:c.994C>T | XP_011519464.1:p.Arg332Ter | |
| XM_011521163.3:c.838C>T | XP_011519465.1:p.Arg280Ter | |
| XM_017021867.2:c.571C>T | XP_016877356.1:p.Arg191Ter | |
| XR_001751060.2:n.1072C>T | ||
| NM_006578.4:c.994C>T | NP_006569.1:p.Arg332Ter | |
| NM_016194.4:c.1120C>T MANE Select | NP_057278.2:p.Arg374Ter | |
| NM_001379343.1:c.838C>T | NP_001366272.1:p.Arg280Ter |