Linked Data
ClinVar Variation Id:
1111047
ClinVar RCV Id:
RCV001437484
dbSNP Id:
rs899975457
gnomAD v4:
11-5226477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226477C>T , CM000673.2:g.5226477C>T | GRCh38 |
| NC_000011.9:g.5247707C>T , CM000673.1:g.5247707C>T | GRCh37 |
| NC_000011.8:g.5204283C>T | NCBI36 |
| NG_000007.3:g.71139G>A | |
| NG_059281.1:g.5595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+100G>A | ENSP00000494175.1:n.315+100G>A | |
| ENST00000335295.4:c.315+100G>A MANE Select | ENSP00000333994.3:n.315+100G>A | |
| ENST00000475226.1:n.247+100G>A | ||
| ENST00000485743.1:n.466G>A | ||
| ENST00000633227.1:c.*131+100G>A | ENSP00000488004.1:n.*131+100G>A | |
| NM_000518.4:c.315+100G>A | NP_000509.1:n.315+100G>A | |
| NM_000518.5:c.315+100G>A MANE Select | NP_000509.1:n.315+100G>A |