Linked Data
ClinVar Variation Id:
14671
ClinVar RCV Id:
RCV000015783
dbSNP Id:
rs1143627
gnomAD v2:
2-113594387-G-A
gnomAD v3:
2-112836810-G-A
gnomAD v4:
2-112836810-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112836810G>A , CM000664.2:g.112836810G>A | GRCh38 |
| NC_000002.11:g.113594387G>A , CM000664.1:g.113594387G>A | GRCh37 |
| NC_000002.10:g.113310858G>A | NCBI36 |
| NG_008851.1:g.4970C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.6:c.-118C>T | ENSP00000263341.2:n.-118C>T | |
| ENST00000418817.5:c.-146C>T | ENSP00000407219.1:n.-146C>T | |
| XM_017003988.2:c.-149C>T | XP_016859477.1:n.-149C>T |