Linked Data
ClinVar Variation Id:
2168873
ClinVar RCV Id:
RCV003082788
dbSNP Id:
rs767539066
ExAC:
11:1780881 C / G
gnomAD v2:
11-1780881-C-G
gnomAD v4:
11-1759651-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1759651C>G , CM000673.2:g.1759651C>G | GRCh38 |
| NC_000011.9:g.1780881C>G , CM000673.1:g.1780881C>G | GRCh37 |
| NC_000011.8:g.1737457C>G | NCBI36 |
| NG_008655.1:g.9342G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.229-12G>C MANE Select | ENSP00000236671.2:n.229-12G>C | |
| ENST00000367196.4:c.124-12G>C | ENSP00000356164.4:n.124-12G>C | |
| ENST00000429746.2:c.124-12G>C | ENSP00000402586.2:n.124-12G>C | |
| ENST00000433655.6:c.229-12G>C | ENSP00000404902.1:n.229-12G>C | |
| ENST00000438213.6:c.229-12G>C | ENSP00000415036.2:n.229-12G>C | |
| ENST00000636397.1:c.229-12G>C | ENSP00000489910.1:n.229-12G>C | |
| ENST00000636571.1:c.208-12G>C | ENSP00000490770.1:n.208-12G>C | |
| ENST00000636615.1:c.229-12G>C | ENSP00000490014.1:n.229-12G>C | |
| ENST00000636843.1:c.229-18G>C | ENSP00000490897.1:n.229-18G>C | |
| ENST00000637381.2:n.2657-12G>C | ||
| ENST00000637387.1:c.229-12G>C | ENSP00000490598.1:n.229-12G>C | |
| ENST00000637815.2:c.229-12G>C | ENSP00000490344.1:n.229-12G>C | |
| ENST00000637915.1:c.229-12G>C | ENSP00000490471.1:n.229-12G>C | |
| ENST00000677300.1:n.624-12G>C | ||
| ENST00000678991.1:c.*90-12G>C | ENSP00000503019.1:n.*90-12G>C | |
| ENST00000236671.6:c.229-12G>C | ENSP00000236671.2:n.229-12G>C | |
| ENST00000367196.3:c.124-12G>C | ENSP00000356164.3:n.124-12G>C | |
| ENST00000433655.5:c.229-12G>C | ENSP00000404902.1:n.229-12G>C | |
| ENST00000438213.5:c.184-12G>C | ENSP00000415036.1:n.184-12G>C | |
| NM_001909.4:c.229-12G>C | NP_001900.1:n.229-12G>C | |
| NM_001909.5:c.229-12G>C MANE Select | NP_001900.1:n.229-12G>C |