Linked Data
ClinVar Variation Id:
2357308
ClinVar RCV Id:
RCV004198019
dbSNP Id:
rs547366487
ExAC:
12:70189117 G / A
gnomAD v2:
12-70189117-G-A
gnomAD v3:
12-69795337-G-A
gnomAD v4:
12-69795337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69795337G>A , CM000674.2:g.69795337G>A | GRCh38 |
| NC_000012.11:g.70189117G>A , CM000674.1:g.70189117G>A | GRCh37 |
| NC_000012.10:g.68475384G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247833.12:c.881G>A MANE Select | ENSP00000247833.7:p.Cys294Tyr | |
| ENST00000247833.11:c.881G>A | ENSP00000247833.7:p.Cys294Tyr | |
| ENST00000362025.9:c.929G>A | ENSP00000355381.5:p.Cys310Tyr | |
| ENST00000378809.8:c.929G>A | ENSP00000368086.4:p.Cys310Tyr | |
| ENST00000378815.10:c.881G>A | ENSP00000368092.6:p.Cys294Tyr | |
| ENST00000417413.7:c.881G>A | ENSP00000436304.2:p.Cys294Tyr | |
| ENST00000483530.6:c.881G>A | ENSP00000419216.2:p.Cys294Tyr | |
| ENST00000526994.6:c.76G>A | ||
| ENST00000550536.5:c.929G>A | ENSP00000447300.1:p.Cys310Tyr | |
| ENST00000550647.5:c.549G>A | ||
| ENST00000551641.5:c.263G>A | ENSP00000448773.1:p.Cys88Tyr | |
| ENST00000552199.5:c.929G>A | ENSP00000448944.1:p.Cys310Tyr | |
| ENST00000553099.5:c.263G>A | ENSP00000448027.1:p.Cys88Tyr | |
| NM_001024647.3:c.263G>A | NP_001019818.1:p.Cys88Tyr | |
| NM_001278402.1:c.263G>A | NP_001265331.1:p.Cys88Tyr | |
| NM_022456.4:c.881G>A | NP_071901.2:p.Cys294Tyr | |
| NM_175623.3:c.929G>A | NP_783322.1:p.Cys310Tyr | |
| NM_175624.3:c.881G>A | NP_783323.1:p.Cys294Tyr | |
| NM_175625.3:c.929G>A | NP_783324.1:p.Cys310Tyr | |
| NR_103519.1:n.1252G>A | ||
| NR_103520.1:n.1386G>A | ||
| XM_006719226.2:c.881G>A | XP_006719289.2:p.Cys294Tyr | |
| XM_006719227.2:c.881G>A | XP_006719290.2:p.Cys294Tyr | |
| XM_011537867.1:c.278G>A | XP_011536169.1:p.Cys93Tyr | |
| XR_944487.1:n.982G>A | ||
| XR_944488.1:n.982G>A | ||
| XR_944489.1:n.982G>A | ||
| XR_944490.1:n.982G>A | ||
| XR_944491.1:n.982G>A | ||
| XR_944492.1:n.982G>A | ||
| XM_006719226.3:c.1031G>A | XP_006719289.3:p.Cys344Tyr | |
| XM_006719227.3:c.1031G>A | XP_006719290.3:p.Cys344Tyr | |
| XM_017018773.1:c.881G>A | XP_016874262.1:p.Cys294Tyr | |
| XM_017018774.2:c.278G>A | XP_016874263.1:p.Cys93Tyr | |
| XM_017018777.2:c.263G>A | XP_016874266.1:p.Cys88Tyr | |
| XM_024448832.1:c.278G>A | XP_024304600.1:p.Cys93Tyr | |
| XR_001748572.2:n.1078G>A | ||
| XR_944487.2:n.1048G>A | ||
| XR_944488.2:n.1048G>A | ||
| XR_944489.2:n.1048G>A | ||
| XR_944490.2:n.1048G>A | ||
| XR_944491.2:n.1048G>A | ||
| XR_944492.2:n.1048G>A | ||
| NM_022456.5:c.881G>A MANE Select | NP_071901.2:p.Cys294Tyr | |
| NM_175623.4:c.929G>A | NP_783322.1:p.Cys310Tyr | |
| NM_175624.4:c.881G>A | NP_783323.1:p.Cys294Tyr | |
| NM_175625.4:c.929G>A | NP_783324.1:p.Cys310Tyr | |
| NR_103519.2:n.1078G>A | ||
| NR_103520.2:n.1395G>A |