Linked Data
ClinVar Variation Id:
550518
ClinVar RCV Id:
RCV000665284
dbSNP Id:
rs551625098
ExAC:
13:20763743 C / T
gnomAD v2:
13-20763743-C-T
gnomAD v3:
13-20189604-C-T
gnomAD v4:
13-20189604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189604C>T , CM000675.2:g.20189604C>T | GRCh38 |
| NC_000013.10:g.20763743C>T , CM000675.1:g.20763743C>T | GRCh37 |
| NC_000013.9:g.19661743C>T | NCBI36 |
| NG_008358.1:g.8372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-23G>A | ENSP00000372295.1:n.-23G>A | |
| ENST00000382848.5:c.-22-1G>A MANE Select | ENSP00000372299.4:n.-22-1G>A | |
| ENST00000382844.1:c.-23G>A | ENSP00000372295.1:n.-23G>A | |
| ENST00000382848.4:c.-22-1G>A | ENSP00000372299.4:n.-22-1G>A | |
| NM_004004.5:c.-22-1G>A | NP_003995.2:n.-22-1G>A | |
| XM_011535049.1:c.-22-1G>A | XP_011533351.1:n.-22-1G>A | |
| XM_011535049.2:c.-22-1G>A | XP_011533351.1:n.-22-1G>A | |
| NM_004004.6:c.-22-1G>A MANE Select | NP_003995.2:n.-22-1G>A |