Linked Data
ClinVar Variation Id:
1124975
ClinVar RCV Id:
RCV001456570
dbSNP Id:
rs948460713
gnomAD v2:
11-5247649-T-A
gnomAD v3:
11-5226419-T-A
gnomAD v4:
11-5226419-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226419T>A , CM000673.2:g.5226419T>A | GRCh38 |
| NC_000011.9:g.5247649T>A , CM000673.1:g.5247649T>A | GRCh37 |
| NC_000011.8:g.5204225T>A | NCBI36 |
| NG_000007.3:g.71197A>T | |
| NG_059281.1:g.5653A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+158A>T | ENSP00000494175.1:n.315+158A>T | |
| ENST00000335295.4:c.315+158A>T MANE Select | ENSP00000333994.3:n.315+158A>T | |
| ENST00000475226.1:n.247+158A>T | ||
| ENST00000485743.1:n.524A>T | ||
| ENST00000633227.1:c.*131+158A>T | ENSP00000488004.1:n.*131+158A>T | |
| NM_000518.4:c.315+158A>T | NP_000509.1:n.315+158A>T | |
| NM_000518.5:c.315+158A>T MANE Select | NP_000509.1:n.315+158A>T |