Linked Data
ClinVar Variation Id:
2539181
ClinVar RCV Id:
RCV003291963
dbSNP Id:
rs200267276
gnomAD v3:
4-786566-C-T
gnomAD v4:
4-786566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786566C>T , CM000666.2:g.786566C>T | GRCh38 |
| NC_000004.11:g.780354C>T , CM000666.1:g.780354C>T | GRCh37 |
| NC_000004.10:g.770354C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.340G>A MANE Select | ENSP00000305613.6:p.Glu114Lys | |
| ENST00000304062.10:c.340G>A | ENSP00000305613.6:p.Glu114Lys | |
| ENST00000504062.1:c.295G>A | ENSP00000421947.1:p.Glu99Lys | |
| ENST00000505203.1:c.277G>A | ENSP00000425960.1:p.Glu93Lys | |
| ENST00000506404.1:n.393G>A | ||
| NM_006651.3:c.340G>A | NP_006642.1:p.Glu114Lys | |
| XM_011513391.1:c.295G>A | XP_011511693.1:p.Glu99Lys | |
| NM_006651.4:c.340G>A MANE Select | NP_006642.1:p.Glu114Lys |