Linked Data
ClinVar Variation Id:
36341
dbSNP Id:
rs34527846
ExAC:
11:5248032 A / C
gnomAD v2:
11-5248032-A-C
gnomAD v4:
11-5226802-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226802A>C , CM000673.2:g.5226802A>C | GRCh38 |
| NC_000011.9:g.5248032A>C , CM000673.1:g.5248032A>C | GRCh37 |
| NC_000011.8:g.5204608A>C | NCBI36 |
| NG_000007.3:g.70814T>G | |
| NG_059281.1:g.5270T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93-3T>G | ENSP00000494175.1:n.93-3T>G | |
| ENST00000335295.4:c.93-3T>G MANE Select | ENSP00000333994.3:n.93-3T>G | |
| ENST00000380315.2:c.93-3T>G | ENSP00000369671.2:n.93-3T>G | |
| ENST00000475226.1:n.22T>G | ||
| ENST00000485743.1:n.144-3T>G | ||
| ENST00000633227.1:c.77-3T>G | ENSP00000488004.1:n.77-3T>G | |
| NM_000518.4:c.93-3T>G | NP_000509.1:n.93-3T>G | |
| NM_000518.5:c.93-3T>G MANE Select | NP_000509.1:n.93-3T>G |