Linked Data
ClinVar Variation Id:
928520
dbSNP Id:
rs372197957
ExAC:
13:20763749 A / G
gnomAD v2:
13-20763749-A-G
gnomAD v3:
13-20189610-A-G
gnomAD v4:
13-20189610-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189610A>G , CM000675.2:g.20189610A>G | GRCh38 |
| NC_000013.10:g.20763749A>G , CM000675.1:g.20763749A>G | GRCh37 |
| NC_000013.9:g.19661749A>G | NCBI36 |
| NG_008358.1:g.8366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-29T>C | ENSP00000372295.1:n.-29T>C | |
| ENST00000382848.5:c.-22-7T>C MANE Select | ENSP00000372299.4:n.-22-7T>C | |
| ENST00000382844.1:c.-29T>C | ENSP00000372295.1:n.-29T>C | |
| ENST00000382848.4:c.-22-7T>C | ENSP00000372299.4:n.-22-7T>C | |
| NM_004004.5:c.-22-7T>C | NP_003995.2:n.-22-7T>C | |
| XM_011535049.1:c.-22-7T>C | XP_011533351.1:n.-22-7T>C | |
| XM_011535049.2:c.-22-7T>C | XP_011533351.1:n.-22-7T>C | |
| NM_004004.6:c.-22-7T>C MANE Select | NP_003995.2:n.-22-7T>C |