Linked Data
ClinVar Variation Id:
719479
ClinVar RCV Id:
RCV000892631
dbSNP Id:
rs17886350
ExAC:
11:34477572 C / A
gnomAD v2:
11-34477572-C-A
gnomAD v3:
11-34456025-C-A
gnomAD v4:
11-34456025-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34456025C>A , CM000673.2:g.34456025C>A | GRCh38 |
| NC_000011.9:g.34477572C>A , CM000673.1:g.34477572C>A | GRCh37 |
| NC_000011.8:g.34434148C>A | NCBI36 |
| NG_013339.1:g.22101C>A | |
| NG_013339.2:g.22101C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241052.5:c.726C>A MANE Select | ENSP00000241052.4:p.Ile242= | |
| ENST00000528104.2:n.96C>A | ||
| ENST00000650153.1:c.640C>A | ||
| ENST00000241052.4:c.726C>A | ENSP00000241052.4:p.Ile242= | |
| NM_001752.3:c.726C>A | NP_001743.1:p.Ile242= | |
| NM_001752.4:c.726C>A MANE Select | NP_001743.1:p.Ile242= |