Linked Data
ClinVar Variation Id:
316693
dbSNP Id:
rs7668
gnomAD v2:
15-63358246-G-T
gnomAD v3:
15-63066047-G-T
gnomAD v4:
15-63066047-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63066047G>T , CM000677.2:g.63066047G>T | GRCh38 |
| NC_000015.9:g.63358246G>T , CM000677.1:g.63358246G>T | GRCh37 |
| NC_000015.8:g.61145299G>T | NCBI36 |
| NG_007557.1:g.28409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558868.6:n.1555+3402G>T | ||
| ENST00000559831.6:c.*191+3402G>T | ENSP00000452977.2:n.*191+3402G>T | |
| ENST00000560131.2:n.2569G>T | ||
| ENST00000560615.6:c.394+3402G>T | ENSP00000453050.2:n.394+3402G>T | |
| ENST00000561395.6:c.*422G>T | ENSP00000453092.2:n.*422G>T | |
| ENST00000651622.2:c.*988G>T | ENSP00000498540.2:n.*988G>T | |
| ENST00000705544.1:c.690G>T | ||
| ENST00000317516.12:c.664+3402G>T | ENSP00000322577.7:n.664+3402G>T | |
| ENST00000334895.10:c.664+3402G>T | ENSP00000334624.4:n.664+3402G>T | |
| ENST00000357980.9:c.898+3402G>T | ENSP00000350667.4:n.898+3402G>T | |
| ENST00000403994.9:c.*148G>T MANE Select | ENSP00000385107.4:n.*148G>T | |
| ENST00000404484.9:c.664+3402G>T | ENSP00000384315.4:n.664+3402G>T | |
| ENST00000559281.6:c.895G>T | ENSP00000452658.1:n.895G>T | |
| ENST00000559397.6:c.772+3402G>T | ENSP00000452879.1:n.772+3402G>T | |
| ENST00000560970.6:c.1051G>T | ENSP00000453062.2:n.1051G>T | |
| ENST00000561266.6:c.*148G>T | ENSP00000453955.2:n.*148G>T | |
| ENST00000644204.1:n.794+3402G>T | ||
| ENST00000651344.1:n.1288+3402G>T | ||
| ENST00000651577.1:c.394+3402G>T | ENSP00000498730.1:n.394+3402G>T | |
| ENST00000651590.1:c.*60G>T | ENSP00000498284.1:n.*60G>T | |
| ENST00000651704.1:c.394+3402G>T | ENSP00000498562.1:n.394+3402G>T | |
| ENST00000267996.11:c.772+3402G>T | ENSP00000267996.7:n.772+3402G>T | |
| ENST00000288398.10:c.*196G>T | ENSP00000288398.6:n.*196G>T | |
| ENST00000317516.11:c.664+3402G>T | ENSP00000322577.7:n.664+3402G>T | |
| ENST00000334895.9:c.664+3402G>T | ENSP00000334624.4:n.664+3402G>T | |
| ENST00000357980.8:c.898+3402G>T | ENSP00000350667.4:n.898+3402G>T | |
| ENST00000358278.7:c.772+3402G>T | ENSP00000351022.3:n.772+3402G>T | |
| ENST00000404484.8:c.664+3402G>T | ENSP00000384315.4:n.664+3402G>T | |
| ENST00000558072.5:n.291+3402G>T | ||
| ENST00000558264.5:c.*191+3402G>T | ENSP00000452624.1:n.*191+3402G>T | |
| ENST00000558347.5:c.*180+3402G>T | ENSP00000452887.1:n.*180+3402G>T | |
| ENST00000558544.5:c.*380+3402G>T | ENSP00000453817.1:n.*380+3402G>T | |
| ENST00000559108.1:n.392G>T | ||
| ENST00000559397.5:c.772+3402G>T | ENSP00000452879.1:n.772+3402G>T | |
| ENST00000559556.5:c.772+3402G>T | ENSP00000453941.1:n.772+3402G>T | |
| ENST00000560131.1:n.491G>T | ||
| ENST00000560445.1:c.*60G>T | ENSP00000452999.1:n.*60G>T | |
| ENST00000560970.5:c.993G>T | ||
| ENST00000560975.5:n.2621+3402G>T | ||
| ENST00000561395.5:c.629G>T | ENSP00000453092.1:n.629G>T | |
| NM_000366.5:c.*196G>T | NP_000357.3:n.*196G>T | |
| NM_001018004.1:c.772+3402G>T | NP_001018004.1:n.772+3402G>T | |
| NM_001018005.1:c.*148G>T | NP_001018005.1:n.*148G>T | |
| NM_001018006.1:c.772+3402G>T | NP_001018006.1:n.772+3402G>T | |
| NM_001018007.1:c.772+3402G>T | NP_001018007.1:n.772+3402G>T | |
| NM_001018008.1:c.664+3402G>T | NP_001018008.1:n.664+3402G>T | |
| NM_001018020.1:c.772+3402G>T | NP_001018020.1:n.772+3402G>T | |
| NM_001301244.1:c.*148G>T | NP_001288173.1:n.*148G>T | |
| NM_001301289.1:c.664+3402G>T | NP_001288218.1:n.664+3402G>T | |
| XM_005254637.1:c.898+3402G>T | XP_005254694.1:n.898+3402G>T | |
| XM_005254638.2:c.*60G>T | XP_005254695.1:n.*60G>T | |
| XM_005254639.2:c.*60G>T | XP_005254696.1:n.*60G>T | |
| XM_005254640.2:c.*60G>T | XP_005254697.1:n.*60G>T | |
| XM_005254641.2:c.*60G>T | XP_005254698.1:n.*60G>T | |
| XM_005254645.1:c.772+3402G>T | XP_005254702.1:n.772+3402G>T | |
| XM_005254647.2:c.*60G>T | XP_005254704.1:n.*60G>T | |
| XM_005254650.2:c.*148G>T | XP_005254707.1:n.*148G>T | |
| XM_005254652.1:c.664+3402G>T | XP_005254709.1:n.664+3402G>T | |
| XM_005254653.1:c.664+3402G>T | XP_005254710.1:n.664+3402G>T | |
| XM_006720667.2:c.*148G>T | XP_006720730.1:n.*148G>T | |
| XM_006720669.2:c.*60G>T | XP_006720732.1:n.*60G>T | |
| NM_001330344.1:c.664+3402G>T | NP_001317273.1:n.664+3402G>T | |
| NM_001330346.1:c.*148G>T | NP_001317275.1:n.*148G>T | |
| NM_001330351.1:c.664+3402G>T | NP_001317280.1:n.664+3402G>T | |
| NM_001365776.1:c.772+3402G>T | NP_001352705.1:n.772+3402G>T | |
| NM_001365777.1:c.*60G>T | NP_001352706.1:n.*60G>T | |
| NM_001365778.1:c.898+3402G>T | NP_001352707.1:n.898+3402G>T | |
| NM_001365779.1:c.*196G>T | NP_001352708.1:n.*196G>T | |
| NM_001365780.1:c.*60G>T | NP_001352709.1:n.*60G>T | |
| NM_001365782.1:c.*1901G>T | NP_001352711.1:n.*1901G>T | |
| XM_005254639.4:c.*60G>T | XP_005254696.3:n.*60G>T | |
| XM_005254650.3:c.*148G>T | XP_005254707.1:n.*148G>T | |
| XM_006720667.4:c.*148G>T | XP_006720730.3:n.*148G>T | |
| XM_017022539.2:c.772+3402G>T | XP_016878028.2:n.772+3402G>T | |
| XR_002957675.1:n.1730+3402G>T | ||
| NM_000366.6:c.*196G>T | NP_000357.3:n.*196G>T | |
| NM_001018004.2:c.772+3402G>T | NP_001018004.1:n.772+3402G>T | |
| NM_001018005.2:c.*148G>T MANE Select | NP_001018005.1:n.*148G>T | |
| NM_001018006.2:c.772+3402G>T | NP_001018006.1:n.772+3402G>T | |
| NM_001018007.2:c.772+3402G>T | NP_001018007.1:n.772+3402G>T | |
| NM_001018008.2:c.664+3402G>T | NP_001018008.1:n.664+3402G>T | |
| NM_001018020.2:c.772+3402G>T | NP_001018020.1:n.772+3402G>T | |
| NM_001301244.2:c.*148G>T | NP_001288173.1:n.*148G>T | |
| NM_001301289.2:c.664+3402G>T | NP_001288218.1:n.664+3402G>T | |
| NM_001330344.2:c.664+3402G>T | NP_001317273.1:n.664+3402G>T | |
| NM_001330346.2:c.*148G>T | NP_001317275.1:n.*148G>T | |
| NM_001330351.2:c.664+3402G>T | NP_001317280.1:n.664+3402G>T | |
| NM_001365781.2:c.*1901G>T | NP_001352710.1:n.*1901G>T |