Linked Data
ClinVar Variation Id:
311362
dbSNP Id:
rs886050027
gnomAD v2:
13-20762240-T-C
gnomAD v3:
13-20188101-T-C
gnomAD v4:
13-20188101-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188101T>C , CM000675.2:g.20188101T>C | GRCh38 |
| NC_000013.10:g.20762240T>C , CM000675.1:g.20762240T>C | GRCh37 |
| NC_000013.9:g.19660240T>C | NCBI36 |
| NG_008358.1:g.9875A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.*800A>G | ENSP00000372295.1:n.*800A>G | |
| ENST00000382848.5:c.*800A>G MANE Select | ENSP00000372299.4:n.*800A>G | |
| ENST00000382844.1:c.*800A>G | ENSP00000372295.1:n.*800A>G | |
| ENST00000382848.4:c.*800A>G | ENSP00000372299.4:n.*800A>G | |
| NM_004004.5:c.*800A>G | NP_003995.2:n.*800A>G | |
| XM_011535049.1:c.*800A>G | XP_011533351.1:n.*800A>G | |
| XM_011535049.2:c.*800A>G | XP_011533351.1:n.*800A>G | |
| NM_004004.6:c.*800A>G MANE Select | NP_003995.2:n.*800A>G |