Linked Data
ClinVar Variation Id:
1715640
ClinVar RCV Id:
RCV002301389
dbSNP Id:
rs1659901882
gnomAD v3:
1-94021682-T-C
gnomAD v4:
1-94021682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021682T>C , CM000663.2:g.94021682T>C | GRCh38 |
| NC_000001.10:g.94487238T>C , CM000663.1:g.94487238T>C | GRCh37 |
| NC_000001.9:g.94259826T>C | NCBI36 |
| NG_009073.1:g.104468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4806A>G MANE Select | ENSP00000359245.3:p.Ile1602Met | |
| ENST00000370225.3:c.4806A>G | ENSP00000359245.3:p.Ile1602Met | |
| ENST00000460514.1:n.300A>G | ||
| ENST00000536513.5:c.1182A>G | ENSP00000439707.2:p.Ile394Met | |
| NM_000350.2:c.4806A>G | NP_000341.2:p.Ile1602Met | |
| NM_000350.3:c.4806A>G MANE Select | NP_000341.2:p.Ile1602Met |