Linked Data
ClinVar Variation Id:
143148
ClinVar RCV Id:
RCV000132673
dbSNP Id:
rs527236094
gnomAD v4:
19-54123783-G-T
MyVariant Identifiers:
chr19:g.54123783G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123783G>T , CM000681.2:g.54123783G>T | GRCh38 |
| NC_000019.8:g.59318974G>T | NCBI36 |
| NG_009759.1:g.13373G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.562G>T MANE Select | ENSP00000324122.4:p.Glu188Ter | |
| ENST00000321030.8:c.562G>T | ENSP00000324122.4:p.Glu188Ter | |
| ENST00000391755.1:c.562G>T | ENSP00000375635.1:p.Glu188Ter | |
| ENST00000419967.5:c.562G>T | ENSP00000405166.2:p.Glu188Ter | |
| ENST00000445124.5:c.562G>T | ENSP00000408980.1:p.Glu188Ter | |
| ENST00000445811.5:c.562G>T | ENSP00000395894.1:p.Glu188Ter | |
| ENST00000447810.5:c.562G>T | ENSP00000395089.1:p.Glu188Ter | |
| ENST00000466404.5:n.432G>T | ||
| ENST00000498612.1:n.345G>T | ||
| NM_015629.3:c.562G>T | NP_056444.3:p.Glu188Ter | |
| XM_006723137.2:c.562G>T | XP_006723200.1:p.Glu188Ter | |
| XR_935789.1:n.611G>T | ||
| XM_006723137.4:c.562G>T | XP_006723200.1:p.Glu188Ter | |
| XR_002958293.1:n.692G>T | ||
| XR_935789.3:n.623G>T | ||
| NM_015629.4:c.562G>T MANE Select | NP_056444.3:p.Glu188Ter |