Linked Data
ClinVar Variation Id:
866045
dbSNP Id:
rs767980304
ExAC:
1:94487410 C / T
gnomAD v2:
1-94487410-C-T
gnomAD v3:
1-94021854-C-T
gnomAD v4:
1-94021854-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021854C>T , CM000663.2:g.94021854C>T | GRCh38 |
| NC_000001.10:g.94487410C>T , CM000663.1:g.94487410C>T | GRCh37 |
| NC_000001.9:g.94259998C>T | NCBI36 |
| NG_009073.1:g.104296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4765G>A MANE Select | ENSP00000359245.3:p.Val1589Met | |
| ENST00000370225.3:c.4765G>A | ENSP00000359245.3:p.Val1589Met | |
| ENST00000460514.1:n.259G>A | ||
| ENST00000536513.5:c.1141G>A | ENSP00000439707.2:p.Val381Met | |
| NM_000350.2:c.4765G>A | NP_000341.2:p.Val1589Met | |
| NM_000350.3:c.4765G>A MANE Select | NP_000341.2:p.Val1589Met |