Linked Data
ClinVar Variation Id:
1168343
dbSNP Id:
rs5742909
gnomAD v2:
2-204732347-C-T
gnomAD v3:
2-203867624-C-T
gnomAD v4:
2-203867624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203867624C>T , CM000664.2:g.203867624C>T | GRCh38 |
| NC_000002.11:g.204732347C>T , CM000664.1:g.204732347C>T | GRCh37 |
| NC_000002.10:g.204440592C>T | NCBI36 |
| NG_011502.1:g.4839C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696479.1:c.48-294C>T | ENSP00000512655.1:n.48-294C>T |