Linked Data
ClinVar Variation Id:
841691
ClinVar RCV Id:
RCV001043958
dbSNP Id:
rs1185838920
gnomAD v2:
12-8757518-T-A
gnomAD v3:
12-8604922-T-A
gnomAD v4:
12-8604922-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604922T>A , CM000674.2:g.8604922T>A | GRCh38 |
| NC_000012.11:g.8757518T>A , CM000674.1:g.8757518T>A | GRCh37 |
| NC_000012.10:g.8648785T>A | NCBI36 |
| NG_011588.1:g.12925A>T , LRG_17:g.12925A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.428-30A>T | ENSP00000445691.1:n.428-30A>T | |
| ENST00000543081.6:c.427+293A>T | ENSP00000439103.2:n.427+293A>T | |
| ENST00000544516.6:c.157-585A>T | ENSP00000439538.2:n.157-585A>T | |
| ENST00000545576.2:n.829A>T | ||
| ENST00000696246.1:c.413-30A>T | ENSP00000512504.1:n.413-30A>T | |
| ENST00000696271.1:n.840A>T | ||
| ENST00000696272.1:c.413A>T | ENSP00000512515.1:p.Asp138Val | |
| ENST00000696273.1:c.461A>T | ENSP00000512516.1:p.Asp154Val | |
| ENST00000229335.11:c.428A>T MANE Select | ENSP00000229335.6:p.Asp143Val | |
| ENST00000229335.10:c.428A>T | ENSP00000229335.6:p.Asp143Val | |
| ENST00000537228.5:c.428-30A>T | ENSP00000445691.1:n.428-30A>T | |
| ENST00000543081.5:c.423+293A>T | ||
| ENST00000544516.5:c.153-585A>T | ||
| ENST00000545512.1:c.424A>T | ||
| ENST00000545576.1:n.754A>T | ||
| NM_020661.2:c.428A>T , LRG_17t1:c.428A>T | NP_065712.1:p.Asp143Val | |
| XM_011520772.1:c.428-30A>T | XP_011519074.1:n.428-30A>T | |
| XM_011520773.1:c.427+293A>T | XP_011519075.1:n.427+293A>T | |
| NM_001330343.1:c.428-30A>T | NP_001317272.1:n.428-30A>T | |
| NM_020661.3:c.428A>T | NP_065712.1:p.Asp143Val | |
| XM_011520773.2:c.427+293A>T | XP_011519075.1:n.427+293A>T | |
| NM_020661.4:c.428A>T MANE Select | NP_065712.1:p.Asp143Val | |
| NM_001330343.2:c.428-30A>T | NP_001317272.1:n.428-30A>T |