Linked Data
ClinVar Variation Id:
1457427
ClinVar RCV Id:
RCV001953747
dbSNP Id:
rs1382184215
gnomAD v3:
12-57763809-C-G
gnomAD v4:
12-57763809-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763809C>G , CM000674.2:g.57763809C>G | GRCh38 |
| NC_000012.11:g.58157592C>G , CM000674.1:g.58157592C>G | GRCh37 |
| NC_000012.10:g.56443859C>G | NCBI36 |
| NG_007076.1:g.8385G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1297-1G>C | ENSP00000518840.1:n.1297-1G>C | |
| ENST00000713545.1:c.*221-1G>C | ENSP00000518841.1:n.*221-1G>C | |
| ENST00000228606.9:c.1216-1G>C MANE Select | ENSP00000228606.4:n.1216-1G>C | |
| ENST00000228606.8:c.1216-1G>C | ENSP00000228606.4:n.1216-1G>C | |
| ENST00000547344.5:n.1355-1G>C | ||
| NM_000785.3:c.1216-1G>C | NP_000776.1:n.1216-1G>C | |
| NM_000785.4:c.1216-1G>C MANE Select | NP_000776.1:n.1216-1G>C |