Linked Data
ClinVar Variation Id:
1557222
ClinVar RCV Id:
RCV002194803
dbSNP Id:
rs2133589012
gnomAD v4:
11-5226863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226863T>C , CM000673.2:g.5226863T>C | GRCh38 |
| NC_000011.9:g.5248093T>C , CM000673.1:g.5248093T>C | GRCh37 |
| NC_000011.8:g.5204669T>C | NCBI36 |
| NG_000007.3:g.70753A>G | |
| NG_059281.1:g.5209A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-64A>G | ENSP00000494175.1:n.93-64A>G | |
| ENST00000335295.4:c.93-64A>G MANE Select | ENSP00000333994.3:n.93-64A>G | |
| ENST00000380315.2:c.93-64A>G | ENSP00000369671.2:n.93-64A>G | |
| ENST00000485743.1:n.144-64A>G | ||
| ENST00000633227.1:c.77-64A>G | ENSP00000488004.1:n.77-64A>G | |
| NM_000518.4:c.93-64A>G | NP_000509.1:n.93-64A>G | |
| NM_000518.5:c.93-64A>G MANE Select | NP_000509.1:n.93-64A>G |