Linked Data
ClinVar Variation Id:
297767
ClinVar RCV Id:
RCV000294915
dbSNP Id:
rs144787622
ExAC:
1:59042067 C / T
gnomAD v2:
1-59042067-C-T
gnomAD v3:
1-58576395-C-T
gnomAD v4:
1-58576395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576395C>T , CM000663.2:g.58576395C>T | GRCh38 |
| NC_000001.10:g.59042067C>T , CM000663.1:g.59042067C>T | GRCh37 |
| NC_000001.9:g.58814655C>T | NCBI36 |
| NG_016237.1:g.6100G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.762G>A MANE Select | ENSP00000360269.2:p.Glu254= | |
| ENST00000371225.3:c.762G>A | ENSP00000360269.2:p.Glu254= | |
| NM_002353.2:c.762G>A | NP_002344.2:p.Glu254= | |
| NM_002353.3:c.762G>A MANE Select | NP_002344.2:p.Glu254= |