Linked Data
ClinVar Variation Id:
224758
dbSNP Id:
rs869312187
gnomAD v4:
19-54128351-C-T
MyVariant Identifiers:
chr19:g.54128351C>T (hg38)
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54128351C>T , CM000681.2:g.54128351C>T | GRCh38 |
| NC_000019.8:g.59323538C>T | NCBI36 |
| NG_009759.1:g.17937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.1120C>T MANE Select | ENSP00000324122.4:p.Gln374Ter | |
| ENST00000321030.8:c.1120C>T | ENSP00000324122.4:p.Gln374Ter | |
| ENST00000391755.1:c.1102C>T | ENSP00000375635.1:p.Gln368Ter | |
| ENST00000419967.5:c.1120C>T | ENSP00000405166.2:p.Gln374Ter | |
| ENST00000466404.5:n.1094C>T | ||
| NM_015629.3:c.1120C>T | NP_056444.3:p.Gln374Ter | |
| XM_006723137.2:c.1120C>T | XP_006723200.1:p.Gln374Ter | |
| XR_935789.1:n.1197C>T | ||
| XM_006723137.4:c.1120C>T | XP_006723200.1:p.Gln374Ter | |
| XR_002958293.1:n.1278C>T | ||
| XR_935789.3:n.1209C>T | ||
| NM_015629.4:c.1120C>T MANE Select | NP_056444.3:p.Gln374Ter |