Linked Data
ClinVar Variation Id:
680264
dbSNP Id:
rs14133
gnomAD v2:
11-111782697-G-C
gnomAD v3:
11-111911973-G-C
gnomAD v4:
11-111911973-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111911973G>C , CM000673.2:g.111911973G>C | GRCh38 |
| NC_000011.9:g.111782697G>C , CM000673.1:g.111782697G>C | GRCh37 |
| NC_000011.8:g.111287907G>C | NCBI36 |
| NG_009824.2:g.16750C>G | |
| NG_033080.1:g.4238G>C | |
| NG_009824.3:g.16750C>G | |
| NG_033080.2:g.4238G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526180.6:c.-224-25C>G | ENSP00000436051.1:n.-224-25C>G | |
| ENST00000527899.6:c.-198-51C>G | ENSP00000436089.2:n.-198-51C>G | |
| ENST00000533475.6:c.-198-51C>G | ENSP00000433560.1:n.-198-51C>G | |
| ENST00000533879.2:c.-198-51C>G | ENSP00000435931.2:n.-198-51C>G | |
| ENST00000533971.2:c.-198-51C>G | ENSP00000434269.1:n.-198-51C>G | |
| ENST00000616970.5:c.-198-51C>G | ENSP00000483554.1:n.-198-51C>G | |
| ENST00000651164.1:c.-159C>G | ENSP00000498735.1:n.-159C>G | |
| ENST00000652223.1:n.115-51C>G | ||
| ENST00000652606.1:n.47-51C>G | ||
| ENST00000227251.7:c.-148C>G | ENSP00000227251.3:n.-148C>G | |
| ENST00000526180.5:c.-249C>G | ENSP00000436051.1:n.-249C>G | |
| ENST00000527899.5:c.-198-51C>G | ENSP00000436089.1:n.-198-51C>G | |
| ENST00000527950.5:c.-198-51C>G | ENSP00000437149.1:n.-198-51C>G | |
| ENST00000528628.5:c.-198-51C>G | ENSP00000432182.1:n.-198-51C>G | |
| ENST00000529647.5:c.-198-51C>G | ENSP00000431754.1:n.-198-51C>G | |
| ENST00000531198.5:c.-198-51C>G | ENSP00000434247.1:n.-198-51C>G | |
| ENST00000533475.5:c.-198-51C>G | ENSP00000433560.1:n.-198-51C>G | |
| ENST00000533879.1:c.-198-51C>G | ENSP00000435931.1:n.-198-51C>G | |
| ENST00000616970.4:c.-198-51C>G | ENSP00000483554.1:n.-198-51C>G | |
| NM_001289807.1:c.-198-51C>G | NP_001276736.1:n.-198-51C>G | |
| NM_001289808.1:c.-249C>G | NP_001276737.1:n.-249C>G | |
| NM_001885.2:c.-198-51C>G | NP_001876.1:n.-198-51C>G | |
| XM_011542608.1:c.-198-51C>G | XP_011540910.1:n.-198-51C>G | |
| NM_001368245.1:c.-198-51C>G | NP_001355174.1:n.-198-51C>G | |
| NM_001885.3:c.-198-51C>G | NP_001876.1:n.-198-51C>G |