Linked Data
ClinVar Variation Id:
43410
ClinVar RCV Id:
RCV000036323
RCV000242458
RCV000322090
RCV000379127
RCV000769475
RCV001094376
RCV001705659
dbSNP Id:
rs397516365
ExAC:
15:63335055 G / A
gnomAD v2:
15-63335055-G-A
gnomAD v3:
15-63042856-G-A
gnomAD v4:
15-63042856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63042856G>A , CM000677.2:g.63042856G>A | GRCh38 |
| NC_000015.9:g.63335055G>A , CM000677.1:g.63335055G>A | GRCh37 |
| NC_000015.8:g.61122108G>A | NCBI36 |
| NG_007557.1:g.5218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559831.6:c.27G>A | ENSP00000452977.2:p.Gln9= | |
| ENST00000560131.2:n.106G>A | ||
| ENST00000561395.6:c.27G>A | ENSP00000453092.2:p.Gln9= | |
| ENST00000357980.9:c.27G>A | ENSP00000350667.4:p.Gln9= | |
| ENST00000403994.9:c.27G>A MANE Select | ENSP00000385107.4:p.Gln9= | |
| ENST00000559397.6:c.27G>A | ENSP00000452879.1:p.Gln9= | |
| ENST00000560970.6:c.27G>A | ENSP00000453062.2:p.Gln9= | |
| ENST00000561266.6:c.27G>A | ENSP00000453955.2:p.Gln9= | |
| ENST00000651344.1:n.209G>A | ||
| ENST00000267996.11:c.27G>A | ENSP00000267996.7:p.Gln9= | |
| ENST00000288398.10:c.27G>A | ENSP00000288398.6:p.Gln9= | |
| ENST00000357980.8:c.27G>A | ENSP00000350667.4:p.Gln9= | |
| ENST00000358278.7:c.27G>A | ENSP00000351022.3:p.Gln9= | |
| ENST00000403994.7:c.27G>A | ENSP00000385107.3:p.Gln9= | |
| ENST00000558314.5:n.106G>A | ||
| ENST00000558347.5:c.27G>A | ENSP00000452887.1:p.Gln9= | |
| ENST00000559397.5:c.27G>A | ENSP00000452879.1:p.Gln9= | |
| ENST00000559556.5:c.27G>A | ENSP00000453941.1:p.Gln9= | |
| ENST00000560445.1:c.27G>A | ENSP00000452999.1:p.Gln9= | |
| ENST00000560975.5:n.173G>A | ||
| ENST00000561425.5:c.27G>A | ENSP00000453324.1:p.Gln9= | |
| ENST00000610733.1:c.27G>A | ENSP00000477929.1:p.Gln9= | |
| NM_000366.5:c.27G>A | NP_000357.3:p.Gln9= | |
| NM_001018004.1:c.27G>A | NP_001018004.1:p.Gln9= | |
| NM_001018005.1:c.27G>A | NP_001018005.1:p.Gln9= | |
| NM_001018006.1:c.27G>A | NP_001018006.1:p.Gln9= | |
| NM_001018007.1:c.27G>A | NP_001018007.1:p.Gln9= | |
| NM_001018020.1:c.27G>A | NP_001018020.1:p.Gln9= | |
| NM_001301244.1:c.27G>A | NP_001288173.1:p.Gln9= | |
| XM_005254637.1:c.27G>A | XP_005254694.1:p.Gln9= | |
| XM_005254638.2:c.27G>A | XP_005254695.1:p.Gln9= | |
| XM_005254639.2:c.27G>A | XP_005254696.1:p.Gln9= | |
| XM_005254640.2:c.27G>A | XP_005254697.1:p.Gln9= | |
| XM_005254641.2:c.27G>A | XP_005254698.1:p.Gln9= | |
| XM_005254645.1:c.27G>A | XP_005254702.1:p.Gln9= | |
| XM_006720667.2:c.27G>A | XP_006720730.1:p.Gln9= | |
| XM_006720669.2:c.-673G>A | XP_006720732.1:n.-673G>A | |
| NM_001365776.1:c.27G>A | NP_001352705.1:p.Gln9= | |
| NM_001365777.1:c.27G>A | NP_001352706.1:p.Gln9= | |
| NM_001365778.1:c.27G>A | NP_001352707.1:p.Gln9= | |
| NM_001365779.1:c.27G>A | NP_001352708.1:p.Gln9= | |
| XM_005254639.4:c.27G>A | XP_005254696.3:p.Gln9= | |
| XM_006720667.4:c.27G>A | XP_006720730.3:p.Gln9= | |
| XM_017022534.2:c.27G>A | XP_016878023.2:p.Gln9= | |
| XM_017022535.2:c.27G>A | XP_016878024.1:p.Gln9= | |
| XM_017022536.2:c.27G>A | XP_016878025.2:p.Gln9= | |
| XM_017022537.2:c.27G>A | XP_016878026.1:p.Gln9= | |
| XM_017022538.2:c.27G>A | XP_016878027.2:p.Gln9= | |
| XM_017022539.2:c.27G>A | XP_016878028.2:p.Gln9= | |
| XM_024450040.1:c.-673G>A | XP_024305808.1:n.-673G>A | |
| NM_000366.6:c.27G>A | NP_000357.3:p.Gln9= | |
| NM_001018004.2:c.27G>A | NP_001018004.1:p.Gln9= | |
| NM_001018005.2:c.27G>A MANE Select | NP_001018005.1:p.Gln9= | |
| NM_001018006.2:c.27G>A | NP_001018006.1:p.Gln9= | |
| NM_001018007.2:c.27G>A | NP_001018007.1:p.Gln9= | |
| NM_001018020.2:c.27G>A | NP_001018020.1:p.Gln9= | |
| NM_001301244.2:c.27G>A | NP_001288173.1:p.Gln9= |