Linked Data
ClinVar Variation Id:
801181
ClinVar RCV Id:
RCV000985733
dbSNP Id:
rs528009939
gnomAD v3:
11-5225469-A-T
gnomAD v4:
11-5225469-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225469A>T , CM000673.2:g.5225469A>T | GRCh38 |
| NC_000011.9:g.5246699A>T , CM000673.1:g.5246699A>T | GRCh37 |
| NC_000011.8:g.5203275A>T | NCBI36 |
| NG_000007.3:g.72147T>A | |
| NG_059281.1:g.6603T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*129T>A | ENSP00000494175.1:n.*129T>A | |
| ENST00000335295.4:c.*129T>A MANE Select | ENSP00000333994.3:n.*129T>A | |
| ENST00000633227.1:c.*389T>A | ENSP00000488004.1:n.*389T>A | |
| NM_000518.4:c.*129T>A | NP_000509.1:n.*129T>A | |
| NM_000518.5:c.*129T>A MANE Select | NP_000509.1:n.*129T>A |