Linked Data
ClinVar Variation Id:
1272982
ClinVar RCV Id:
RCV001678805
dbSNP Id:
rs775429
ExAC:
12:70091432 T / C
gnomAD v2:
12-70091432-T-C
gnomAD v3:
12-69697652-T-C
gnomAD v4:
12-69697652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69697652T>C , CM000674.2:g.69697652T>C | GRCh38 |
| NC_000012.11:g.70091432T>C , CM000674.1:g.70091432T>C | GRCh37 |
| NC_000012.10:g.68377699T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330891.10:c.147A>G MANE Select | ENSP00000332413.5:p.Val49= | |
| ENST00000266661.8:c.-72+1553A>G | ENSP00000266661.4:n.-72+1553A>G | |
| ENST00000330891.9:c.147A>G | ENSP00000332413.5:p.Val49= | |
| ENST00000331471.8:c.147A>G | ENSP00000329064.4:p.Val49= | |
| ENST00000476098.5:c.-185+1553A>G | ENSP00000434713.1:n.-185+1553A>G | |
| ENST00000533674.1:n.140+1553A>G | ||
| ENST00000547208.5:c.-50+1553A>G | ENSP00000449868.1:n.-50+1553A>G | |
| ENST00000548658.1:c.147A>G | ENSP00000446575.1:p.Val49= | |
| ENST00000551160.5:c.-167+1553A>G | ENSP00000449377.1:n.-167+1553A>G | |
| ENST00000553096.5:c.-72+1553A>G | ENSP00000449548.1:n.-72+1553A>G | |
| NM_001282613.1:c.-72+1553A>G | NP_001269542.1:n.-72+1553A>G | |
| NM_001282614.1:c.147A>G | NP_001269543.1:p.Val49= | |
| NM_001282615.1:c.-72+1553A>G | NP_001269544.1:n.-72+1553A>G | |
| NM_001282616.1:c.-167+1553A>G | NP_001269545.1:n.-167+1553A>G | |
| NM_032735.2:c.147A>G | NP_116124.2:p.Val49= | |
| XM_005268674.2:c.147A>G | XP_005268731.1:p.Val49= | |
| XM_006719252.2:c.147A>G | XP_006719315.1:p.Val49= | |
| XM_006719256.2:c.147A>G | XP_006719319.1:p.Val49= | |
| XM_011537961.1:c.-77A>G | XP_011536263.1:n.-77A>G | |
| XM_011537963.1:c.-11A>G | XP_011536265.1:n.-11A>G | |
| XM_024448853.1:c.147A>G | XP_024304621.1:p.Val49= | |
| XM_024448854.1:c.-72+1553A>G | XP_024304622.1:n.-72+1553A>G | |
| XM_024448855.1:c.-185+1553A>G | XP_024304623.1:n.-185+1553A>G | |
| XM_024448856.1:c.-6+1553A>G | XP_024304624.1:n.-6+1553A>G | |
| XM_024448857.1:c.-72+1553A>G | XP_024304625.1:n.-72+1553A>G | |
| NM_032735.3:c.147A>G MANE Select | NP_116124.2:p.Val49= | |
| NM_001282615.2:c.-72+1553A>G | NP_001269544.1:n.-72+1553A>G | |
| NM_001282616.2:c.-167+1553A>G | NP_001269545.1:n.-167+1553A>G | |
| NM_001282613.2:c.-72+1553A>G | NP_001269542.1:n.-72+1553A>G | |
| NM_001282614.2:c.147A>G | NP_001269543.1:p.Val49= |