Linked Data
ClinVar Variation Id:
3171791
ClinVar RCV Id:
RCV004458662
dbSNP Id:
rs1416472478
gnomAD v3:
1-108798208-T-G
gnomAD v4:
1-108798208-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108798208T>G , CM000663.2:g.108798208T>G | GRCh38 |
| NC_000001.10:g.109340830T>G , CM000663.1:g.109340830T>G | GRCh37 |
| NC_000001.9:g.109142353T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370008.4:c.1420T>G MANE Select | ENSP00000359025.3:p.Trp474Gly | |
| ENST00000370008.3:c.1420T>G | ENSP00000359025.3:p.Trp474Gly | |
| ENST00000472099.1:n.556T>G | ||
| NM_007269.2:c.1420T>G | NP_009200.2:p.Trp474Gly | |
| NM_007269.3:c.1420T>G | NP_009200.2:p.Trp474Gly | |
| NM_007269.4:c.1420T>G MANE Select | NP_009200.2:p.Trp474Gly |