Linked Data
ClinVar Variation Id:
257230
dbSNP Id:
rs16862847
gnomAD v2:
2-175629600-T-C
gnomAD v3:
2-174764872-T-C
gnomAD v4:
2-174764872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174764872T>C , CM000664.2:g.174764872T>C | GRCh38 |
| NC_000002.11:g.175629600T>C , CM000664.1:g.175629600T>C | GRCh37 |
| NC_000002.10:g.175337846T>C | NCBI36 |
| NG_008172.1:g.4601A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636168.2:c.-446-5239A>G | ENSP00000490338.2:n.-446-5239A>G |