Linked Data
ClinVar Variation Id:
309214
dbSNP Id:
rs1045892
gnomAD v2:
12-5026667-G-C
gnomAD v3:
12-4917501-G-C
gnomAD v4:
12-4917501-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4917501G>C , CM000674.2:g.4917501G>C | GRCh38 |
| NC_000012.11:g.5026667G>C , CM000674.1:g.5026667G>C | GRCh37 |
| NC_000012.10:g.4896928G>C | NCBI36 |
| NG_011815.1:g.12595G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*4635G>C MANE Select | ENSP00000371985.3:n.*4635G>C | |
| ENST00000543874.3:n.106-285G>C | ||
| ENST00000639306.1:c.2184-285G>C | ENSP00000492506.1:n.2184-285G>C | |
| ENST00000639680.1:c.160-285G>C | ||
| ENST00000382545.3:c.*4635G>C | ENSP00000371985.3:n.*4635G>C | |
| ENST00000541095.1:n.105+7029G>C | ||
| ENST00000543874.2:n.97-285G>C | ||
| NM_000217.2:c.*4635G>C | NP_000208.2:n.*4635G>C | |
| NM_000217.3:c.*4635G>C MANE Select | NP_000208.2:n.*4635G>C |