Linked Data
ClinVar Variation Id:
326023
ClinVar RCV Id:
RCV000347801
dbSNP Id:
rs574706247
gnomAD v2:
17-8130012-G-A
gnomAD v3:
17-8226694-G-A
gnomAD v4:
17-8226694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8226694G>A , CM000679.2:g.8226694G>A | GRCh38 |
| NC_000017.10:g.8130012G>A , CM000679.1:g.8130012G>A | GRCh37 |
| NC_000017.9:g.8070737G>A | NCBI36 |
| NG_032148.1:g.26402C>T | |
| NG_032148.2:g.26402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651323.1:c.*1486C>T MANE Select | ENSP00000498499.1:n.*1486C>T | |
| ENST00000315684.12:c.*1486C>T | ENSP00000313759.8:n.*1486C>T | |
| NM_025099.5:c.*1486C>T | NP_079375.3:n.*1486C>T | |
| NR_046431.1:n.5029C>T | ||
| XM_006721577.2:c.*1486C>T | XP_006721640.1:n.*1486C>T | |
| XM_006721578.2:c.*1486C>T | XP_006721641.1:n.*1486C>T | |
| XM_011524010.1:c.*1486C>T | XP_011522312.1:n.*1486C>T | |
| XM_011524011.1:c.*1486C>T | XP_011522313.1:n.*1486C>T | |
| XR_429823.2:n.5017C>T | ||
| XR_429824.2:n.5118C>T | ||
| NM_025099.6:c.*1486C>T MANE Select | NP_079375.3:n.*1486C>T | |
| XM_006721577.3:c.*1486C>T | XP_006721640.1:n.*1486C>T | |
| XM_006721578.3:c.*1486C>T | XP_006721641.1:n.*1486C>T | |
| XM_011524010.2:c.*1486C>T | XP_011522312.1:n.*1486C>T | |
| XM_011524011.2:c.*1486C>T | XP_011522313.1:n.*1486C>T | |
| XR_001752639.1:n.4991C>T | ||
| XR_001752640.1:n.5139C>T | ||
| XR_001752641.1:n.5074C>T | ||
| XR_001752642.1:n.4924C>T | ||
| XR_002958073.1:n.5430C>T | ||
| XR_429823.3:n.5017C>T | ||
| XR_429824.3:n.5118C>T | ||
| NR_046431.2:n.4990C>T |