Linked Data
ClinVar Variation Id:
44721
ClinVar RCV Id:
RCV000037809
RCV000311687
RCV000336963
RCV000351365
RCV000586780
RCV001374657
RCV004534803
dbSNP Id:
rs148136545
ExAC:
13:20763726 A / T
gnomAD v2:
13-20763726-A-T
gnomAD v3:
13-20189587-A-T
gnomAD v4:
13-20189587-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189587A>T , CM000675.2:g.20189587A>T | GRCh38 |
| NC_000013.10:g.20763726A>T , CM000675.1:g.20763726A>T | GRCh37 |
| NC_000013.9:g.19661726A>T | NCBI36 |
| NG_008358.1:g.8389T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-6T>A | ENSP00000372295.1:n.-6T>A | |
| ENST00000382848.5:c.-6T>A MANE Select | ENSP00000372299.4:n.-6T>A | |
| ENST00000382844.1:c.-6T>A | ENSP00000372295.1:n.-6T>A | |
| ENST00000382848.4:c.-6T>A | ENSP00000372299.4:n.-6T>A | |
| NM_004004.5:c.-6T>A | NP_003995.2:n.-6T>A | |
| XM_011535049.1:c.-6T>A | XP_011533351.1:n.-6T>A | |
| XM_011535049.2:c.-6T>A | XP_011533351.1:n.-6T>A | |
| NM_004004.6:c.-6T>A MANE Select | NP_003995.2:n.-6T>A |