Linked Data
ClinVar Variation Id:
978418
ClinVar RCV Id:
RCV001257050
dbSNP Id:
rs1959056079
gnomAD v4:
13-20189013-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189013A>T , CM000675.2:g.20189013A>T | GRCh38 |
| NC_000013.10:g.20763152A>T , CM000675.1:g.20763152A>T | GRCh37 |
| NC_000013.9:g.19661152A>T | NCBI36 |
| NG_008358.1:g.8963T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.569T>A | ENSP00000372295.1:p.Val190Asp | |
| ENST00000382848.5:c.569T>A MANE Select | ENSP00000372299.4:p.Val190Asp | |
| ENST00000382844.1:c.569T>A | ENSP00000372295.1:p.Val190Asp | |
| ENST00000382848.4:c.569T>A | ENSP00000372299.4:p.Val190Asp | |
| NM_004004.5:c.569T>A | NP_003995.2:p.Val190Asp | |
| XM_011535049.1:c.569T>A | XP_011533351.1:p.Val190Asp | |
| XM_011535049.2:c.569T>A | XP_011533351.1:p.Val190Asp | |
| NM_004004.6:c.569T>A MANE Select | NP_003995.2:p.Val190Asp |