Linked Data
ClinVar Variation Id:
295927
ClinVar RCV Id:
RCV000290340
dbSNP Id:
rs16844841
gnomAD v2:
1-225590675-A-C
gnomAD v3:
1-225402973-A-C
gnomAD v4:
1-225402973-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225402973A>C , CM000663.2:g.225402973A>C | GRCh38 |
| NC_000001.10:g.225590675A>C , CM000663.1:g.225590675A>C | GRCh37 |
| NC_000001.9:g.223657298A>C | NCBI36 |
| NG_008099.1:g.30845T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.*330T>G MANE Select | ENSP00000272163.4:n.*330T>G | |
| ENST00000651341.1:c.*1113+231T>G | ENSP00000499114.1:n.*1113+231T>G | |
| ENST00000272163.8:c.*330T>G | ENSP00000272163.4:n.*330T>G | |
| ENST00000338179.6:c.*330T>G | ENSP00000339883.2:n.*330T>G | |
| NM_002296.3:c.*330T>G | NP_002287.2:n.*330T>G | |
| NM_194442.2:c.*330T>G | NP_919424.1:n.*330T>G | |
| XM_005273125.2:c.*330T>G | XP_005273182.1:n.*330T>G | |
| XM_011544185.1:c.*330T>G | XP_011542487.1:n.*330T>G | |
| XM_011544186.1:c.*330T>G | XP_011542488.1:n.*330T>G | |
| XM_005273125.3:c.*330T>G | XP_005273182.1:n.*330T>G | |
| XM_011544185.3:c.*330T>G | XP_011542487.1:n.*330T>G | |
| XR_001737168.2:n.2201T>G | ||
| NM_002296.4:c.*330T>G MANE Select | NP_002287.2:n.*330T>G | |
| NM_194442.3:c.*330T>G | NP_919424.1:n.*330T>G |