Linked Data
ClinVar Variation Id:
3150769
ClinVar RCV Id:
RCV004443176
dbSNP Id:
rs150673904
ExAC:
12:70150202 C / T
gnomAD v2:
12-70150202-C-T
gnomAD v3:
12-69756422-C-T
gnomAD v4:
12-69756422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69756422C>T , CM000674.2:g.69756422C>T | GRCh38 |
| NC_000012.11:g.70150202C>T , CM000674.1:g.70150202C>T | GRCh37 |
| NC_000012.10:g.68436469C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247833.12:c.269C>T MANE Select | ENSP00000247833.7:p.Pro90Leu | |
| ENST00000247833.11:c.269C>T | ENSP00000247833.7:p.Pro90Leu | |
| ENST00000362025.9:c.317C>T | ENSP00000355381.5:p.Pro106Leu | |
| ENST00000378809.8:c.317C>T | ENSP00000368086.4:p.Pro106Leu | |
| ENST00000378815.10:c.269C>T | ENSP00000368092.6:p.Pro90Leu | |
| ENST00000417413.7:c.269C>T | ENSP00000436304.2:p.Pro90Leu | |
| ENST00000483530.6:c.269C>T | ENSP00000419216.2:p.Pro90Leu | |
| ENST00000547591.5:c.204C>T | ||
| ENST00000549760.1:c.269C>T | ENSP00000450355.1:p.Pro90Leu | |
| ENST00000550536.5:c.317C>T | ENSP00000447300.1:p.Pro106Leu | |
| ENST00000552199.5:c.317C>T | ENSP00000448944.1:p.Pro106Leu | |
| NM_022456.4:c.269C>T | NP_071901.2:p.Pro90Leu | |
| NM_175623.3:c.317C>T | NP_783322.1:p.Pro106Leu | |
| NM_175624.3:c.269C>T | NP_783323.1:p.Pro90Leu | |
| NM_175625.3:c.317C>T | NP_783324.1:p.Pro106Leu | |
| NR_103519.1:n.640C>T | ||
| NR_103520.1:n.774C>T | ||
| XM_006719226.2:c.269C>T | XP_006719289.2:p.Pro90Leu | |
| XM_006719227.2:c.269C>T | XP_006719290.2:p.Pro90Leu | |
| XR_944487.1:n.370C>T | ||
| XR_944488.1:n.370C>T | ||
| XR_944489.1:n.370C>T | ||
| XR_944490.1:n.370C>T | ||
| XR_944491.1:n.370C>T | ||
| XR_944492.1:n.370C>T | ||
| XM_006719226.3:c.419C>T | XP_006719289.3:p.Pro140Leu | |
| XM_006719227.3:c.419C>T | XP_006719290.3:p.Pro140Leu | |
| XM_017018773.1:c.269C>T | XP_016874262.1:p.Pro90Leu | |
| XM_017018774.2:c.-508C>T | XP_016874263.1:n.-508C>T | |
| XM_017018775.1:c.419C>T | XP_016874264.1:p.Pro140Leu | |
| XM_017018777.2:c.-350C>T | XP_016874266.1:n.-350C>T | |
| XM_024448832.1:c.-2835C>T | XP_024304600.1:n.-2835C>T | |
| XR_001748572.2:n.466C>T | ||
| XR_944487.2:n.436C>T | ||
| XR_944488.2:n.436C>T | ||
| XR_944489.2:n.436C>T | ||
| XR_944490.2:n.436C>T | ||
| XR_944491.2:n.436C>T | ||
| XR_944492.2:n.436C>T | ||
| NM_022456.5:c.269C>T MANE Select | NP_071901.2:p.Pro90Leu | |
| NM_175623.4:c.317C>T | NP_783322.1:p.Pro106Leu | |
| NM_175624.4:c.269C>T | NP_783323.1:p.Pro90Leu | |
| NM_175625.4:c.317C>T | NP_783324.1:p.Pro106Leu | |
| NR_103519.2:n.466C>T | ||
| NR_103520.2:n.783C>T |