Linked Data
ClinVar Variation Id:
948653
ClinVar RCV Id:
RCV001219955
dbSNP Id:
rs774350716
ExAC:
1:94463452 C / T
gnomAD v2:
1-94463452-C-T
gnomAD v3:
1-93997896-C-T
gnomAD v4:
1-93997896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997896C>T , CM000663.2:g.93997896C>T | GRCh38 |
| NC_000001.10:g.94463452C>T , CM000663.1:g.94463452C>T | GRCh37 |
| NC_000001.9:g.94236040C>T | NCBI36 |
| NG_009073.1:g.128254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6694G>A MANE Select | ENSP00000359245.3:p.Glu2232Lys | |
| ENST00000370225.3:c.6694G>A | ENSP00000359245.3:p.Glu2232Lys | |
| ENST00000536513.5:c.3070G>A | ENSP00000439707.2:p.Glu1024Lys | |
| NM_000350.2:c.6694G>A | NP_000341.2:p.Glu2232Lys | |
| NM_000350.3:c.6694G>A MANE Select | NP_000341.2:p.Glu2232Lys |