Linked Data
ClinVar Variation Id:
2001609
ClinVar RCV Id:
RCV002815581
dbSNP Id:
rs746945498
ExAC:
15:63336360 A / G
gnomAD v2:
15-63336360-A-G
gnomAD v4:
15-63044161-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63044161A>G , CM000677.2:g.63044161A>G | GRCh38 |
| NC_000015.9:g.63336360A>G , CM000677.1:g.63336360A>G | GRCh37 |
| NC_000015.8:g.61123413A>G | NCBI36 |
| NG_007557.1:g.6523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559831.6:c.240+9A>G | ENSP00000452977.2:n.240+9A>G | |
| ENST00000560131.2:n.319+9A>G | ||
| ENST00000561395.6:c.240+9A>G | ENSP00000453092.2:n.240+9A>G | |
| ENST00000357980.9:c.366+9A>G | ENSP00000350667.4:n.366+9A>G | |
| ENST00000403994.9:c.240+9A>G MANE Select | ENSP00000385107.4:n.240+9A>G | |
| ENST00000559397.6:c.240+330A>G | ENSP00000452879.1:n.240+330A>G | |
| ENST00000560970.6:c.240+9A>G | ENSP00000453062.2:n.240+9A>G | |
| ENST00000561266.6:c.240+330A>G | ENSP00000453955.2:n.240+330A>G | |
| ENST00000644204.1:n.186+9A>G | ||
| ENST00000651344.1:n.422+9A>G | ||
| ENST00000267996.11:c.240+330A>G | ENSP00000267996.7:n.240+330A>G | |
| ENST00000288398.10:c.240+9A>G | ENSP00000288398.6:n.240+9A>G | |
| ENST00000357980.8:c.366+9A>G | ENSP00000350667.4:n.366+9A>G | |
| ENST00000358278.7:c.240+9A>G | ENSP00000351022.3:n.240+9A>G | |
| ENST00000403994.7:c.240+9A>G | ENSP00000385107.3:n.240+9A>G | |
| ENST00000558314.5:n.640+9A>G | ||
| ENST00000558347.5:c.240+9A>G | ENSP00000452887.1:n.240+9A>G | |
| ENST00000559397.5:c.240+330A>G | ENSP00000452879.1:n.240+330A>G | |
| ENST00000559556.5:c.240+9A>G | ENSP00000453941.1:n.240+9A>G | |
| ENST00000559831.5:c.12+9A>G | ENSP00000452977.1:n.12+9A>G | |
| ENST00000560445.1:c.186+63A>G | ENSP00000452999.1:n.186+63A>G | |
| ENST00000560970.5:c.182+9A>G | ||
| ENST00000560975.5:n.1148+330A>G | ||
| ENST00000561266.5:c.56+330A>G | ||
| ENST00000561425.5:c.*354+330A>G | ENSP00000453324.1:n.*354+330A>G | |
| ENST00000610733.1:c.249A>G | ENSP00000477929.1:p.Ala83= | |
| NM_000366.5:c.240+9A>G | NP_000357.3:n.240+9A>G | |
| NM_001018004.1:c.240+9A>G | NP_001018004.1:n.240+9A>G | |
| NM_001018005.1:c.240+9A>G | NP_001018005.1:n.240+9A>G | |
| NM_001018006.1:c.240+9A>G | NP_001018006.1:n.240+9A>G | |
| NM_001018007.1:c.240+330A>G | NP_001018007.1:n.240+330A>G | |
| NM_001018020.1:c.240+330A>G | NP_001018020.1:n.240+330A>G | |
| NM_001301244.1:c.240+330A>G | NP_001288173.1:n.240+330A>G | |
| XM_005254637.1:c.366+9A>G | XP_005254694.1:n.366+9A>G | |
| XM_005254638.2:c.240+9A>G | XP_005254695.1:n.240+9A>G | |
| XM_005254639.2:c.240+9A>G | XP_005254696.1:n.240+9A>G | |
| XM_005254640.2:c.240+330A>G | XP_005254697.1:n.240+330A>G | |
| XM_005254641.2:c.240+330A>G | XP_005254698.1:n.240+330A>G | |
| XM_005254645.1:c.240+9A>G | XP_005254702.1:n.240+9A>G | |
| XM_006720667.2:c.240+9A>G | XP_006720730.1:n.240+9A>G | |
| XM_006720669.2:c.-139+9A>G | XP_006720732.1:n.-139+9A>G | |
| NM_001365776.1:c.240+9A>G | NP_001352705.1:n.240+9A>G | |
| NM_001365777.1:c.240+9A>G | NP_001352706.1:n.240+9A>G | |
| NM_001365778.1:c.366+9A>G | NP_001352707.1:n.366+9A>G | |
| NM_001365779.1:c.240+9A>G | NP_001352708.1:n.240+9A>G | |
| XM_005254639.4:c.240+9A>G | XP_005254696.3:n.240+9A>G | |
| XM_006720667.4:c.240+9A>G | XP_006720730.3:n.240+9A>G | |
| XM_017022534.2:c.240+9A>G | XP_016878023.2:n.240+9A>G | |
| XM_017022535.2:c.240+330A>G | XP_016878024.1:n.240+330A>G | |
| XM_017022536.2:c.240+9A>G | XP_016878025.2:n.240+9A>G | |
| XM_017022537.2:c.240+330A>G | XP_016878026.1:n.240+330A>G | |
| XM_017022538.2:c.240+9A>G | XP_016878027.2:n.240+9A>G | |
| XM_017022539.2:c.240+9A>G | XP_016878028.2:n.240+9A>G | |
| XM_024450040.1:c.-139+9A>G | XP_024305808.1:n.-139+9A>G | |
| NM_000366.6:c.240+9A>G | NP_000357.3:n.240+9A>G | |
| NM_001018004.2:c.240+9A>G | NP_001018004.1:n.240+9A>G | |
| NM_001018005.2:c.240+9A>G MANE Select | NP_001018005.1:n.240+9A>G | |
| NM_001018006.2:c.240+9A>G | NP_001018006.1:n.240+9A>G | |
| NM_001018007.2:c.240+330A>G | NP_001018007.1:n.240+330A>G | |
| NM_001018020.2:c.240+330A>G | NP_001018020.1:n.240+330A>G | |
| NM_001301244.2:c.240+330A>G | NP_001288173.1:n.240+330A>G |