Linked Data
ClinVar Variation Id:
13607
ClinVar RCV Id:
RCV000014577
dbSNP Id:
rs104893760
gnomAD v4:
3-87260022-C-A
PubMed:
PMID:7670563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260022C>A , CM000665.2:g.87260022C>A | GRCh38 |
| NC_000003.11:g.87309172C>A , CM000665.1:g.87309172C>A | GRCh37 |
| NC_000003.10:g.87391862C>A | NCBI36 |
| NG_008225.2:g.21566G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.826G>T | ENSP00000342931.3:p.Glu276Ter | |
| ENST00000350375.7:c.748G>T MANE Select | ENSP00000263781.2:p.Glu250Ter | |
| ENST00000344265.7:c.826G>T | ENSP00000342931.3:p.Glu276Ter | |
| ENST00000350375.6:c.748G>T | ENSP00000263781.2:p.Glu250Ter | |
| ENST00000560656.1:c.522G>T | ENSP00000452610.1:n.522G>T | |
| ENST00000561167.5:c.523G>T | ENSP00000454072.1:p.Glu175Ter | |
| NM_000306.3:c.748G>T | NP_000297.1:p.Glu250Ter | |
| NM_001122757.2:c.826G>T | NP_001116229.1:p.Glu276Ter | |
| NM_000306.4:c.748G>T MANE Select | NP_000297.1:p.Glu250Ter | |
| NM_001122757.3:c.826G>T | NP_001116229.1:p.Glu276Ter |