Linked Data
ClinVar Variation Id:
133325
dbSNP Id:
rs587777419
gnomAD v2:
15-65321879-G-A
gnomAD v4:
15-65029541-G-A
PubMed:
PMID:24461907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029541G>A , CM000677.2:g.65029541G>A | GRCh38 |
| NC_000015.9:g.65321879G>A , CM000677.1:g.65321879G>A | GRCh37 |
| NC_000015.8:g.63108932G>A | NCBI36 |
| NG_029184.1:g.5099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220058.9:c.73C>T MANE Select | ENSP00000220058.4:p.Gln25Ter | |
| ENST00000220058.8:c.73C>T | ENSP00000220058.4:p.Gln25Ter | |
| ENST00000543678.1:c.73C>T | ENSP00000443754.1:p.Gln25Ter | |
| ENST00000558460.5:c.73C>T | ENSP00000452646.1:p.Gln25Ter | |
| ENST00000558614.1:n.34C>T | ||
| ENST00000560717.5:c.58C>T | ENSP00000457257.1:p.Gln20Ter | |
| NM_139242.3:c.73C>T | NP_640335.2:p.Gln25Ter | |
| XM_005254158.5:c.73C>T | XP_005254215.2:p.Gln25Ter | |
| XR_001751081.1:n.88C>T | ||
| NM_139242.4:c.73C>T MANE Select | NP_640335.2:p.Gln25Ter |