Linked Data
ClinVar Variation Id:
3139985
ClinVar RCV Id:
RCV004430809
dbSNP Id:
rs1745658242
gnomAD v3:
5-55233355-T-C
gnomAD v4:
5-55233355-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233355T>C , CM000667.2:g.55233355T>C | GRCh38 |
| NC_000005.9:g.54529183T>C , CM000667.1:g.54529183T>C | GRCh37 |
| NC_000005.8:g.54564940T>C | NCBI36 |
| NG_034201.1:g.5363A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.169A>G MANE Select | ENSP00000282572.4:p.Ile57Val | |
| ENST00000282572.4:c.169A>G | ENSP00000282572.4:p.Ile57Val | |
| ENST00000501463.2:c.169A>G | ENSP00000422485.1:p.Ile57Val | |
| NM_021147.4:c.169A>G | NP_066970.3:p.Ile57Val | |
| NR_125346.1:n.363A>G | ||
| NR_125347.1:n.363A>G | ||
| NM_021147.5:c.169A>G MANE Select | NP_066970.3:p.Ile57Val | |
| NR_125346.2:n.254A>G | ||
| NR_125347.2:n.254A>G |