Linked Data
ClinVar Variation Id:
143074
ClinVar RCV Id:
RCV000132589
dbSNP Id:
rs527236129
gnomAD v4:
1-94047039-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047039T>A , CM000663.2:g.94047039T>A | GRCh38 |
| NC_000001.10:g.94512595T>A , CM000663.1:g.94512595T>A | GRCh37 |
| NC_000001.9:g.94285183T>A | NCBI36 |
| NG_009073.1:g.79111A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2798A>T MANE Select | ENSP00000359245.3:p.Asn933Ile | |
| ENST00000649773.1:c.2576A>T | ENSP00000496882.1:p.Asn859Ile | |
| ENST00000370225.3:c.2798A>T | ENSP00000359245.3:p.Asn933Ile | |
| ENST00000536513.5:c.-64-6950A>T | ENSP00000439707.2:n.-64-6950A>T | |
| NM_000350.2:c.2798A>T | NP_000341.2:p.Asn933Ile | |
| NM_000350.3:c.2798A>T MANE Select | NP_000341.2:p.Asn933Ile |