Linked Data
ClinVar Variation Id:
1584478
ClinVar RCV Id:
RCV002102620
dbSNP Id:
rs776180321
ExAC:
1:94497337 C / T
gnomAD v2:
1-94497337-C-T
gnomAD v3:
1-94031781-C-T
gnomAD v4:
1-94031781-C-T
COSMIC:
COSM272287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031781C>T , CM000663.2:g.94031781C>T | GRCh38 |
| NC_000001.10:g.94497337C>T , CM000663.1:g.94497337C>T | GRCh37 |
| NC_000001.9:g.94269925C>T | NCBI36 |
| NG_009073.1:g.94369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4125G>A MANE Select | ENSP00000359245.3:p.Ala1375= | |
| ENST00000370225.3:c.4125G>A | ENSP00000359245.3:p.Ala1375= | |
| ENST00000536513.5:c.501G>A | ENSP00000439707.2:p.Ala167= | |
| NM_000350.2:c.4125G>A | NP_000341.2:p.Ala1375= | |
| NM_000350.3:c.4125G>A MANE Select | NP_000341.2:p.Ala1375= |