Linked Data
ClinVar Variation Id:
2182320
ClinVar RCV Id:
RCV002610789
dbSNP Id:
rs374454037
ExAC:
12:58157559 T / C
gnomAD v2:
12-58157559-T-C
gnomAD v3:
12-57763776-T-C
gnomAD v4:
12-57763776-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763776T>C , CM000674.2:g.57763776T>C | GRCh38 |
| NC_000012.11:g.58157559T>C , CM000674.1:g.58157559T>C | GRCh37 |
| NC_000012.10:g.56443826T>C | NCBI36 |
| NG_007076.1:g.8418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1329A>G | ENSP00000518840.1:p.Ser443= | |
| ENST00000713545.1:c.*253A>G | ENSP00000518841.1:n.*253A>G | |
| ENST00000228606.9:c.1248A>G MANE Select | ENSP00000228606.4:p.Ser416= | |
| ENST00000228606.8:c.1248A>G | ENSP00000228606.4:p.Ser416= | |
| ENST00000547344.5:n.1387A>G | ||
| NM_000785.3:c.1248A>G | NP_000776.1:p.Ser416= | |
| NM_000785.4:c.1248A>G MANE Select | NP_000776.1:p.Ser416= |