Linked Data
ClinVar Variation Id:
99322
ClinVar RCV Id:
RCV000085675
dbSNP Id:
rs62645943
gnomAD v2:
1-94568660-C-T
gnomAD v4:
1-94103104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94103104C>T , CM000663.2:g.94103104C>T | GRCh38 |
| NC_000001.10:g.94568660C>T , CM000663.1:g.94568660C>T | GRCh37 |
| NC_000001.9:g.94341248C>T | NCBI36 |
| NG_009073.1:g.23046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.481G>A MANE Select | ENSP00000359245.3:p.Glu161Lys | |
| ENST00000649773.1:c.481G>A | ENSP00000496882.1:p.Glu161Lys | |
| ENST00000370225.3:c.481G>A | ENSP00000359245.3:p.Glu161Lys | |
| NM_000350.2:c.481G>A | NP_000341.2:p.Glu161Lys | |
| NM_000350.3:c.481G>A MANE Select | NP_000341.2:p.Glu161Lys |