Linked Data
ClinVar Variation Id:
31882
ClinVar RCV Id:
RCV000024578
RCV000208146
RCV000054795
RCV000526765
RCV000578109
RCV003149576
RCV002345253
dbSNP Id:
rs199476315
gnomAD v4:
15-63061723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63061723G>A , CM000677.2:g.63061723G>A | GRCh38 |
| NC_000015.9:g.63353922G>A , CM000677.1:g.63353922G>A | GRCh37 |
| NC_000015.8:g.61140975G>A | NCBI36 |
| NG_007557.1:g.24085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558868.6:n.1357G>A | ||
| ENST00000559831.6:c.650G>A | ENSP00000452977.2:p.Arg217Gln | |
| ENST00000560131.2:n.722G>A | ||
| ENST00000560615.6:c.261+450G>A | ENSP00000453050.2:n.261+450G>A | |
| ENST00000561395.6:c.461G>A | ENSP00000453092.2:p.Arg154Gln | |
| ENST00000651622.2:c.466G>A | ENSP00000498540.2:p.Glu156Lys | |
| ENST00000705544.1:c.261G>A | ||
| ENST00000317516.12:c.531+450G>A | ENSP00000322577.7:n.531+450G>A | |
| ENST00000334895.10:c.466G>A | ENSP00000334624.4:p.Glu156Lys | |
| ENST00000357980.9:c.700G>A | ENSP00000350667.4:p.Glu234Lys | |
| ENST00000403994.9:c.574G>A MANE Select | ENSP00000385107.4:p.Glu192Lys | |
| ENST00000404484.9:c.531+450G>A | ENSP00000384315.4:n.531+450G>A | |
| ENST00000558910.3:c.466G>A | ENSP00000452830.2:p.Glu156Lys | |
| ENST00000559281.6:c.466G>A | ENSP00000452658.1:p.Glu156Lys | |
| ENST00000559397.6:c.639+450G>A | ENSP00000452879.1:n.639+450G>A | |
| ENST00000560970.6:c.574G>A | ENSP00000453062.2:p.Glu192Lys | |
| ENST00000561266.6:c.574G>A | ENSP00000453955.2:p.Glu192Lys | |
| ENST00000644204.1:n.596G>A | ||
| ENST00000651344.1:n.1090G>A | ||
| ENST00000651577.1:c.196G>A | ENSP00000498730.1:p.Glu66Lys | |
| ENST00000651590.1:c.466G>A | ENSP00000498284.1:p.Glu156Lys | |
| ENST00000651704.1:c.196G>A | ENSP00000498562.1:p.Glu66Lys | |
| ENST00000267996.11:c.574G>A | ENSP00000267996.7:p.Glu192Lys | |
| ENST00000288398.10:c.639+450G>A | ENSP00000288398.6:n.639+450G>A | |
| ENST00000317516.11:c.531+450G>A | ENSP00000322577.7:n.531+450G>A | |
| ENST00000334895.9:c.466G>A | ENSP00000334624.4:p.Glu156Lys | |
| ENST00000357980.8:c.700G>A | ENSP00000350667.4:p.Glu234Lys | |
| ENST00000358278.7:c.639+450G>A | ENSP00000351022.3:n.639+450G>A | |
| ENST00000403994.7:c.574G>A | ENSP00000385107.3:p.Glu192Lys | |
| ENST00000404484.8:c.531+450G>A | ENSP00000384315.4:n.531+450G>A | |
| ENST00000558264.5:c.272G>A | ENSP00000452624.1:p.Arg91Gln | |
| ENST00000558347.5:c.*47+450G>A | ENSP00000452887.1:n.*47+450G>A | |
| ENST00000558544.5:c.*247+450G>A | ENSP00000453817.1:n.*247+450G>A | |
| ENST00000559281.5:c.466G>A | ENSP00000452658.1:p.Glu156Lys | |
| ENST00000559397.5:c.639+450G>A | ENSP00000452879.1:n.639+450G>A | |
| ENST00000559556.5:c.574G>A | ENSP00000453941.1:p.Glu192Lys | |
| ENST00000559831.5:c.422G>A | ENSP00000452977.1:p.Arg141Gln | |
| ENST00000560445.1:c.187-4238G>A | ENSP00000452999.1:n.187-4238G>A | |
| ENST00000560615.5:c.261+450G>A | ENSP00000453050.1:n.261+450G>A | |
| ENST00000560959.5:c.531+450G>A | ENSP00000453724.1:n.531+450G>A | |
| ENST00000560970.5:c.516G>A | ||
| ENST00000560975.5:n.1997G>A | ||
| ENST00000561242.1:n.490G>A | ||
| ENST00000561266.5:c.390G>A | ||
| ENST00000561395.5:c.200G>A | ENSP00000453092.1:p.Arg67Gln | |
| NM_000366.5:c.639+450G>A | NP_000357.3:n.639+450G>A | |
| NM_001018004.1:c.574G>A | NP_001018004.1:p.Glu192Lys | |
| NM_001018005.1:c.574G>A | NP_001018005.1:p.Glu192Lys | |
| NM_001018006.1:c.639+450G>A | NP_001018006.1:n.639+450G>A | |
| NM_001018007.1:c.574G>A | NP_001018007.1:p.Glu192Lys | |
| NM_001018008.1:c.466G>A | NP_001018008.1:p.Glu156Lys | |
| NM_001018020.1:c.639+450G>A | NP_001018020.1:n.639+450G>A | |
| NM_001301244.1:c.574G>A | NP_001288173.1:p.Glu192Lys | |
| NM_001301289.1:c.466G>A | NP_001288218.1:p.Glu156Lys | |
| XM_005254637.1:c.700G>A | XP_005254694.1:p.Glu234Lys | |
| XM_005254638.2:c.574G>A | XP_005254695.1:p.Glu192Lys | |
| XM_005254639.2:c.639+450G>A | XP_005254696.1:n.639+450G>A | |
| XM_005254640.2:c.574G>A | XP_005254697.1:p.Glu192Lys | |
| XM_005254641.2:c.639+450G>A | XP_005254698.1:n.639+450G>A | |
| XM_005254645.1:c.574G>A | XP_005254702.1:p.Glu192Lys | |
| XM_005254646.1:c.531+450G>A | XP_005254703.1:n.531+450G>A | |
| XM_005254647.2:c.466G>A | XP_005254704.1:p.Glu156Lys | |
| XM_005254648.1:c.466G>A | XP_005254705.1:p.Glu156Lys | |
| XM_005254650.2:c.531+450G>A | XP_005254707.1:n.531+450G>A | |
| XM_005254651.1:c.531+450G>A | XP_005254708.1:n.531+450G>A | |
| XM_005254652.1:c.531+450G>A | XP_005254709.1:n.531+450G>A | |
| XM_005254653.1:c.531+450G>A | XP_005254710.1:n.531+450G>A | |
| XM_006720667.2:c.639+450G>A | XP_006720730.1:n.639+450G>A | |
| XM_006720669.2:c.196G>A | XP_006720732.1:p.Glu66Lys | |
| NM_001330344.1:c.531+450G>A | NP_001317273.1:n.531+450G>A | |
| NM_001330346.1:c.466G>A | NP_001317275.1:p.Glu156Lys | |
| NM_001330351.1:c.531+450G>A | NP_001317280.1:n.531+450G>A | |
| NM_001365776.1:c.574G>A | NP_001352705.1:p.Glu192Lys | |
| NM_001365777.1:c.574G>A | NP_001352706.1:p.Glu192Lys | |
| NM_001365778.1:c.700G>A | NP_001352707.1:p.Glu234Lys | |
| NM_001365779.1:c.574G>A | NP_001352708.1:p.Glu192Lys | |
| NM_001365780.1:c.466G>A | NP_001352709.1:p.Glu156Lys | |
| NM_001365781.1:c.531+450G>A | NP_001352710.1:n.531+450G>A | |
| NM_001365782.1:c.466G>A | NP_001352711.1:p.Glu156Lys | |
| XM_005254639.4:c.639+450G>A | XP_005254696.3:n.639+450G>A | |
| XM_005254646.2:c.531+450G>A | XP_005254703.1:n.531+450G>A | |
| XM_005254650.3:c.531+450G>A | XP_005254707.1:n.531+450G>A | |
| XM_006720667.4:c.639+450G>A | XP_006720730.3:n.639+450G>A | |
| XM_017022534.2:c.574G>A | XP_016878023.2:p.Glu192Lys | |
| XM_017022535.2:c.574G>A | XP_016878024.1:p.Glu192Lys | |
| XM_017022536.2:c.639+450G>A | XP_016878025.2:n.639+450G>A | |
| XM_017022537.2:c.639+450G>A | XP_016878026.1:n.639+450G>A | |
| XM_017022538.2:c.639+450G>A | XP_016878027.2:n.639+450G>A | |
| XM_017022539.2:c.639+450G>A | XP_016878028.2:n.639+450G>A | |
| XM_017022540.1:c.466G>A | XP_016878029.1:p.Glu156Lys | |
| XM_024450040.1:c.261+450G>A | XP_024305808.1:n.261+450G>A | |
| XR_002957675.1:n.1106G>A | ||
| NM_000366.6:c.639+450G>A | NP_000357.3:n.639+450G>A | |
| NM_001018004.2:c.574G>A | NP_001018004.1:p.Glu192Lys | |
| NM_001018005.2:c.574G>A MANE Select | NP_001018005.1:p.Glu192Lys | |
| NM_001018006.2:c.639+450G>A | NP_001018006.1:n.639+450G>A | |
| NM_001018007.2:c.574G>A | NP_001018007.1:p.Glu192Lys | |
| NM_001018008.2:c.466G>A | NP_001018008.1:p.Glu156Lys | |
| NM_001018020.2:c.639+450G>A | NP_001018020.1:n.639+450G>A | |
| NM_001301244.2:c.574G>A | NP_001288173.1:p.Glu192Lys | |
| NM_001301289.2:c.466G>A | NP_001288218.1:p.Glu156Lys | |
| NM_001330344.2:c.531+450G>A | NP_001317273.1:n.531+450G>A | |
| NM_001330346.2:c.466G>A | NP_001317275.1:p.Glu156Lys | |
| NM_001330351.2:c.531+450G>A | NP_001317280.1:n.531+450G>A | |
| NM_001365781.2:c.531+450G>A | NP_001352710.1:n.531+450G>A |