Linked Data
ClinVar Variation Id:
417979
ClinVar RCV Id:
RCV000483659
dbSNP Id:
rs1064793005
gnomAD v4:
1-94103107-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94103107C>A , CM000663.2:g.94103107C>A | GRCh38 |
| NC_000001.10:g.94568663C>A , CM000663.1:g.94568663C>A | GRCh37 |
| NC_000001.9:g.94341251C>A | NCBI36 |
| NG_009073.1:g.23043G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.478G>T MANE Select | ENSP00000359245.3:p.Glu160Ter | |
| ENST00000649773.1:c.478G>T | ENSP00000496882.1:p.Glu160Ter | |
| ENST00000370225.3:c.478G>T | ENSP00000359245.3:p.Glu160Ter | |
| NM_000350.2:c.478G>T | NP_000341.2:p.Glu160Ter | |
| NM_000350.3:c.478G>T MANE Select | NP_000341.2:p.Glu160Ter |