Linked Data
ClinVar Variation Id:
324952
ClinVar RCV Id:
RCV000365253
dbSNP Id:
rs566018587
ExAC:
17:71189190 G / C
gnomAD v2:
17-71189190-G-C
gnomAD v3:
17-73193051-G-C
gnomAD v4:
17-73193051-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73193051G>C , CM000679.2:g.73193051G>C | GRCh38 |
| NC_000017.10:g.71189190G>C , CM000679.1:g.71189190G>C | GRCh37 |
| NC_000017.9:g.68700785G>C | NCBI36 |
| NG_008971.1:g.5018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.8:c.-19G>C | ENSP00000299886.4:n.-19G>C | |
| ENST00000618996.4:c.-19G>C | ENSP00000479450.1:n.-19G>C | |
| NM_018714.2:c.-19G>C | NP_061184.1:n.-19G>C |