Linked Data
ClinVar Variation Id:
851825
ClinVar RCV Id:
RCV001056306
dbSNP Id:
rs373671679
ExAC:
19:4816762 T / A
gnomAD v2:
19-4816762-T-A
gnomAD v3:
19-4816750-T-A
gnomAD v4:
19-4816750-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816750T>A , CM000681.2:g.4816750T>A | GRCh38 |
| NC_000019.9:g.4816762T>A , CM000681.1:g.4816762T>A | GRCh37 |
| NC_000019.8:g.4767762T>A | NCBI36 |
| NG_031998.1:g.19993A>T , LRG_358:g.19993A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1628A>T MANE Select | ENSP00000248244.4:p.Glu543Val | |
| ENST00000248244.5:c.1628A>T | ENSP00000248244.4:p.Glu543Val | |
| ENST00000621756.1:c.1211A>T | ENSP00000479467.1:p.Glu404Val | |
| NM_182919.3:c.1628A>T , LRG_358t1:c.1628A>T | NP_891549.1:p.Glu543Val | |
| NM_001385678.1:c.1586A>T | NP_001372607.1:p.Glu529Val | |
| NM_001385679.1:c.1493A>T | NP_001372608.1:p.Glu498Val | |
| NM_001385680.1:c.986A>T | NP_001372609.1:p.Glu329Val | |
| NM_182919.4:c.1628A>T MANE Select | NP_891549.1:p.Glu543Val |