Linked Data
ClinVar Variation Id:
316684
ClinVar RCV Id:
RCV002487396
dbSNP Id:
rs886051320
gnomAD v2:
15-63334923-C-T
gnomAD v3:
15-63042724-C-T
gnomAD v4:
15-63042724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63042724C>T , CM000677.2:g.63042724C>T | GRCh38 |
| NC_000015.9:g.63334923C>T , CM000677.1:g.63334923C>T | GRCh37 |
| NC_000015.8:g.61121976C>T | NCBI36 |
| NG_007557.1:g.5086C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559831.6:c.-106C>T | ENSP00000452977.2:n.-106C>T | |
| ENST00000651344.1:n.77C>T | ||
| ENST00000288398.10:c.-106C>T | ENSP00000288398.6:n.-106C>T | |
| ENST00000358278.7:c.-106C>T | ENSP00000351022.3:n.-106C>T | |
| ENST00000560975.5:n.41C>T | ||
| ENST00000610733.1:c.-106C>T | ENSP00000477929.1:n.-106C>T | |
| NM_000366.5:c.-106C>T | NP_000357.3:n.-106C>T | |
| NM_001018004.1:c.-106C>T | NP_001018004.1:n.-106C>T | |
| NM_001018005.1:c.-106C>T | NP_001018005.1:n.-106C>T | |
| NM_001018006.1:c.-106C>T | NP_001018006.1:n.-106C>T | |
| NM_001018007.1:c.-106C>T | NP_001018007.1:n.-106C>T | |
| NM_001018020.1:c.-106C>T | NP_001018020.1:n.-106C>T | |
| NM_001301244.1:c.-106C>T | NP_001288173.1:n.-106C>T | |
| XM_005254637.1:c.-106C>T | XP_005254694.1:n.-106C>T | |
| XM_005254638.2:c.-106C>T | XP_005254695.1:n.-106C>T | |
| XM_005254639.2:c.-106C>T | XP_005254696.1:n.-106C>T | |
| XM_005254640.2:c.-106C>T | XP_005254697.1:n.-106C>T | |
| XM_005254641.2:c.-106C>T | XP_005254698.1:n.-106C>T | |
| XM_005254645.1:c.-106C>T | XP_005254702.1:n.-106C>T | |
| XM_006720667.2:c.-106C>T | XP_006720730.1:n.-106C>T | |
| XM_006720669.2:c.-805C>T | XP_006720732.1:n.-805C>T | |
| XM_005254639.4:c.-106C>T | XP_005254696.3:n.-106C>T | |
| XM_006720667.4:c.-106C>T | XP_006720730.3:n.-106C>T | |
| XM_017022534.2:c.-106C>T | XP_016878023.2:n.-106C>T | |
| XM_017022535.2:c.-106C>T | XP_016878024.1:n.-106C>T | |
| XM_017022536.2:c.-106C>T | XP_016878025.2:n.-106C>T | |
| XM_017022537.2:c.-106C>T | XP_016878026.1:n.-106C>T | |
| XM_017022538.2:c.-106C>T | XP_016878027.2:n.-106C>T | |
| XM_017022539.2:c.-106C>T | XP_016878028.2:n.-106C>T |