Linked Data
ClinVar Variation Id:
1709
ClinVar RCV Id:
RCV001514009
dbSNP Id:
rs3793784
gnomAD v2:
10-50747539-G-C
gnomAD v3:
10-49539493-G-C
gnomAD v4:
10-49539493-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49539493G>C , CM000672.2:g.49539493G>C | GRCh38 |
| NC_000010.10:g.50747539G>C , CM000672.1:g.50747539G>C | GRCh37 |
| NC_000010.9:g.50417545G>C | NCBI36 |
| NG_009442.1:g.4609C>G , LRG_465:g.4609C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462247.1:c.-76C>G | ENSP00000422827.1:n.-76C>G | |
| ENST00000515869.1:c.-76C>G | ENSP00000423550.1:n.-76C>G | |
| NM_001277059.1:c.-76C>G | NP_001263988.1:n.-76C>G | |
| NM_001277059.2:c.-76C>G | NP_001263988.1:n.-76C>G |