Linked Data
ClinVar Variation Id:
2280936
ClinVar RCV Id:
RCV004131812
dbSNP Id:
rs754692513
ExAC:
8:19809404 C / T
gnomAD v2:
8-19809404-C-T
gnomAD v3:
8-19951893-C-T
gnomAD v4:
8-19951893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951893C>T , CM000670.2:g.19951893C>T | GRCh38 |
| NC_000008.10:g.19809404C>T , CM000670.1:g.19809404C>T | GRCh37 |
| NC_000008.9:g.19853684C>T | NCBI36 |
| NG_008855.1:g.17823C>T | |
| NG_008855.2:g.55177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.374C>T MANE Select | ENSP00000497642.1:p.Ala125Val | |
| ENST00000311322.8:c.374C>T | ENSP00000309757.6:p.Ala125Val | |
| ENST00000520959.5:c.146C>T | ENSP00000428496.1:p.Ala49Val | |
| ENST00000524029.5:c.374C>T | ENSP00000428237.1:p.Ala125Val | |
| NM_000237.2:c.374C>T | NP_000228.1:p.Ala125Val | |
| NM_000237.3:c.374C>T MANE Select | NP_000228.1:p.Ala125Val |