Linked Data
ClinVar Variation Id:
1637547
ClinVar RCV Id:
RCV002131318
dbSNP Id:
rs565840446
gnomAD v3:
11-5226382-A-T
gnomAD v4:
11-5226382-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226382A>T , CM000673.2:g.5226382A>T | GRCh38 |
| NC_000011.9:g.5247612A>T , CM000673.1:g.5247612A>T | GRCh37 |
| NC_000011.8:g.5204188A>T | NCBI36 |
| NG_000007.3:g.71234T>A | |
| NG_059281.1:g.5690T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+195T>A | ENSP00000494175.1:n.315+195T>A | |
| ENST00000335295.4:c.315+195T>A MANE Select | ENSP00000333994.3:n.315+195T>A | |
| ENST00000475226.1:n.247+195T>A | ||
| ENST00000485743.1:n.561T>A | ||
| ENST00000633227.1:c.*131+195T>A | ENSP00000488004.1:n.*131+195T>A | |
| NM_000518.4:c.315+195T>A | NP_000509.1:n.315+195T>A | |
| NM_000518.5:c.315+195T>A MANE Select | NP_000509.1:n.315+195T>A |