Linked Data
ClinVar Variation Id:
308525
ClinVar RCV Id:
RCV002262962
dbSNP Id:
rs565997897
gnomAD v2:
12-33049764-A-G
gnomAD v3:
12-32896830-A-G
gnomAD v4:
12-32896830-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32896830A>G , CM000674.2:g.32896830A>G | GRCh38 |
| NC_000012.11:g.33049764A>G , CM000674.1:g.33049764A>G | GRCh37 |
| NC_000012.10:g.32941031A>G | NCBI36 |
| NG_009000.1:g.5017T>C , LRG_398:g.5017T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340811.8:c.-99T>C | ENSP00000342800.4:n.-99T>C | |
| NM_001005242.2:c.-99T>C | NP_001005242.2:n.-99T>C | |
| NM_004572.3:c.-99T>C , LRG_398t1:c.-99T>C | NP_004563.2:n.-99T>C |