Linked Data
ClinVar Variation Id:
13609
ClinVar RCV Id:
RCV000014579
dbSNP Id:
rs104893762
gnomAD v4:
3-87260055-G-A
PubMed:
PMID:9626142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260055G>A , CM000665.2:g.87260055G>A | GRCh38 |
| NC_000003.11:g.87309205G>A , CM000665.1:g.87309205G>A | GRCh37 |
| NC_000003.10:g.87391895G>A | NCBI36 |
| NG_008225.2:g.21533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.793C>T | ENSP00000342931.3:p.Pro265Ser | |
| ENST00000350375.7:c.715C>T MANE Select | ENSP00000263781.2:p.Pro239Ser | |
| ENST00000344265.7:c.793C>T | ENSP00000342931.3:p.Pro265Ser | |
| ENST00000350375.6:c.715C>T | ENSP00000263781.2:p.Pro239Ser | |
| ENST00000560656.1:c.489C>T | ENSP00000452610.1:p.Asn163= | |
| ENST00000561167.5:c.490C>T | ENSP00000454072.1:p.Pro164Ser | |
| NM_000306.3:c.715C>T | NP_000297.1:p.Pro239Ser | |
| NM_001122757.2:c.793C>T | NP_001116229.1:p.Pro265Ser | |
| NM_000306.4:c.715C>T MANE Select | NP_000297.1:p.Pro239Ser | |
| NM_001122757.3:c.793C>T | NP_001116229.1:p.Pro265Ser |