Linked Data
ClinVar Variation Id:
1162781
dbSNP Id:
rs111521887
gnomAD v2:
11-1312706-C-G
gnomAD v3:
11-1291476-C-G
gnomAD v4:
11-1291476-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1291476C>G , CM000673.2:g.1291476C>G | GRCh38 |
| NC_000011.9:g.1312706C>G , CM000673.1:g.1312706C>G | GRCh37 |
| NC_000011.8:g.1269282C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317204.11:c.184-1067G>C MANE Select | ENSP00000314733.5:n.184-1067G>C | |
| ENST00000263646.11:c.100-1067G>C | ENSP00000263646.6:n.100-1067G>C | |
| ENST00000317204.10:c.184-1067G>C | ENSP00000314733.5:n.184-1067G>C | |
| ENST00000525159.5:c.184-2700G>C | ENSP00000432668.1:n.184-2700G>C | |
| ENST00000527638.1:n.283-283G>C | ||
| ENST00000527746.5:n.276-1067G>C | ||
| ENST00000527886.5:c.-24-1067G>C | ENSP00000434035.1:n.-24-1067G>C | |
| ENST00000527938.5:c.183+4169G>C | ENSP00000432778.1:n.183+4169G>C | |
| ENST00000528719.1:n.345+350G>C | ||
| ENST00000530506.5:c.34-1067G>C | ENSP00000436393.1:n.34-1067G>C | |
| ENST00000530541.1:c.34-1067G>C | ENSP00000434494.1:n.34-1067G>C | |
| NM_019009.3:c.184-1067G>C | NP_061882.2:n.184-1067G>C | |
| XM_011520192.1:c.-24-1067G>C | XP_011518494.1:n.-24-1067G>C | |
| NM_001318512.1:c.34-1067G>C | NP_001305441.1:n.34-1067G>C | |
| NM_001318514.1:c.-24-1067G>C | NP_001305443.1:n.-24-1067G>C | |
| NM_001318515.1:c.183+4169G>C | NP_001305444.1:n.183+4169G>C | |
| NM_001318516.1:c.184-2700G>C | NP_001305445.1:n.184-2700G>C | |
| XR_001747910.2:n.309-1067G>C | ||
| NM_019009.4:c.184-1067G>C MANE Select | NP_061882.2:n.184-1067G>C | |
| NM_001318512.2:c.34-1067G>C | NP_001305441.1:n.34-1067G>C | |
| NM_001318515.2:c.183+4169G>C | NP_001305444.1:n.183+4169G>C | |
| NM_001318516.2:c.184-2700G>C | NP_001305445.1:n.184-2700G>C | |
| NM_001318514.2:c.-24-1067G>C | NP_001305443.1:n.-24-1067G>C |