Linked Data
ClinVar Variation Id:
2003523
ClinVar RCV Id:
RCV002811244
dbSNP Id:
rs369482557
gnomAD v3:
11-5226909-T-C
gnomAD v4:
11-5226909-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226909T>C , CM000673.2:g.5226909T>C | GRCh38 |
| NC_000011.9:g.5248139T>C , CM000673.1:g.5248139T>C | GRCh37 |
| NC_000011.8:g.5204715T>C | NCBI36 |
| NG_000007.3:g.70707A>G | |
| NG_059281.1:g.5163A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.92+21A>G | ENSP00000494175.1:n.92+21A>G | |
| ENST00000335295.4:c.92+21A>G MANE Select | ENSP00000333994.3:n.92+21A>G | |
| ENST00000380315.2:c.92+21A>G | ENSP00000369671.2:n.92+21A>G | |
| ENST00000485743.1:n.143+21A>G | ||
| ENST00000633227.1:c.76+37A>G | ENSP00000488004.1:n.76+37A>G | |
| NM_000518.4:c.92+21A>G | NP_000509.1:n.92+21A>G | |
| NM_000518.5:c.92+21A>G MANE Select | NP_000509.1:n.92+21A>G |