Linked Data
ClinVar Variation Id:
450608
dbSNP Id:
rs749597091
gnomAD v2:
15-52416814-G-T
gnomAD v4:
15-52124617-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52124617G>T , CM000677.2:g.52124617G>T | GRCh38 |
| NC_000015.9:g.52416814G>T , CM000677.1:g.52416814G>T | GRCh37 |
| NC_000015.8:g.50204106G>T | NCBI36 |
| NG_052868.1:g.71752C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261837.12:c.1032C>A MANE Select | ENSP00000261837.7:p.Tyr344Ter | |
| ENST00000261837.11:c.1032C>A | ENSP00000261837.7:p.Tyr344Ter | |
| ENST00000358784.11:c.906C>A | ENSP00000351635.7:p.Tyr302Ter | |
| ENST00000396335.8:c.696C>A | ENSP00000379626.4:p.Tyr232Ter | |
| ENST00000557936.5:n.720C>A | ||
| ENST00000558519.5:c.529C>A | ENSP00000453339.1:n.529C>A | |
| ENST00000559348.5:n.1513C>A | ||
| ENST00000559541.1:n.680C>A | ||
| ENST00000560085.1:n.959+547C>A | ||
| NM_006578.3:c.906C>A | NP_006569.1:p.Tyr302Ter | |
| NM_016194.3:c.1032C>A | NP_057278.2:p.Tyr344Ter | |
| XM_011521162.1:c.906C>A | XP_011519464.1:p.Tyr302Ter | |
| XM_011521163.1:c.750C>A | XP_011519465.1:p.Tyr250Ter | |
| XM_011521162.3:c.906C>A | XP_011519464.1:p.Tyr302Ter | |
| XM_011521163.3:c.750C>A | XP_011519465.1:p.Tyr250Ter | |
| XM_017021867.2:c.483C>A | XP_016877356.1:p.Tyr161Ter | |
| XR_001751060.2:n.984C>A | ||
| NM_006578.4:c.906C>A | NP_006569.1:p.Tyr302Ter | |
| NM_016194.4:c.1032C>A MANE Select | NP_057278.2:p.Tyr344Ter | |
| NM_001379343.1:c.750C>A | NP_001366272.1:p.Tyr250Ter |