Linked Data
ClinVar Variation Id:
303796
dbSNP Id:
rs1055581
gnomAD v2:
11-17515668-T-C
gnomAD v3:
11-17494121-T-C
gnomAD v4:
11-17494121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17494121T>C , CM000673.2:g.17494121T>C | GRCh38 |
| NC_000011.9:g.17515668T>C , CM000673.1:g.17515668T>C | GRCh37 |
| NC_000011.8:g.17472244T>C | NCBI36 |
| NG_011883.1:g.55296A>G | |
| NG_011883.2:g.55296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.*211A>G MANE Select | ENSP00000005226.7:n.*211A>G | |
| ENST00000318024.9:c.*243A>G MANE Plus Clinical | ENSP00000317018.4:n.*243A>G | |
| ENST00000318024.8:c.*243A>G | ENSP00000317018.4:n.*243A>G | |
| ENST00000526313.5:c.*616A>G | ENSP00000432236.1:n.*616A>G | |
| ENST00000527020.5:c.*243A>G | ENSP00000436934.1:n.*243A>G | |
| ENST00000527720.5:c.*243A>G | ENSP00000432944.1:n.*243A>G | |
| ENST00000529563.5:n.786A>G | ||
| ENST00000624811.1:n.973A>G | ||
| NM_001297764.1:c.*243A>G | NP_001284693.1:n.*243A>G | |
| NM_005709.3:c.*243A>G | NP_005700.2:n.*243A>G | |
| NM_153676.3:c.*211A>G | NP_710142.1:n.*211A>G | |
| NR_123738.1:n.1937A>G | ||
| XM_011519831.1:c.*243A>G | XP_011518133.1:n.*243A>G | |
| XM_011519832.1:c.*243A>G | XP_011518134.1:n.*243A>G | |
| XM_011519832.3:c.*243A>G | XP_011518134.1:n.*243A>G | |
| XR_001747717.2:n.2061A>G | ||
| NM_153676.4:c.*211A>G MANE Select | NP_710142.1:n.*211A>G | |
| NM_001297764.2:c.*243A>G | NP_001284693.1:n.*243A>G | |
| NM_005709.4:c.*243A>G MANE Plus Clinical | NP_005700.2:n.*243A>G | |
| NR_123738.2:n.1937A>G |