Linked Data
dbSNP Id:
rs3755486
gnomAD v2:
2-175631886-C-T
gnomAD v3:
2-174767158-C-T
gnomAD v4:
2-174767158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174767158C>T , CM000664.2:g.174767158C>T | GRCh38 |
| NC_000002.11:g.175631886C>T , CM000664.1:g.175631886C>T | GRCh37 |
| NC_000002.10:g.175340132C>T | NCBI36 |
| NG_008172.1:g.2315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.-446-7525G>A | ENSP00000490338.2:n.-446-7525G>A |