Linked Data
ClinVar Variation Id:
1513623
ClinVar RCV Id:
RCV002026260
dbSNP Id:
rs368609786
gnomAD v4:
2-71110035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71110035T>C , CM000664.2:g.71110035T>C | GRCh38 |
| NC_000002.11:g.71337165T>C , CM000664.1:g.71337165T>C | GRCh37 |
| NC_000002.10:g.71190673T>C | NCBI36 |
| NG_008977.1:g.25230A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.466A>G MANE Select | ENSP00000244217.5:p.Lys156Glu | |
| ENST00000244217.5:c.466A>G | ENSP00000244217.5:p.Lys156Glu | |
| ENST00000413592.5:c.172A>G | ENSP00000391140.1:p.Lys58Glu | |
| ENST00000462609.2:n.412A>G | ||
| NM_032601.3:c.466A>G | NP_115990.3:p.Lys156Glu | |
| XM_005264613.2:c.304A>G | XP_005264670.1:p.Lys102Glu | |
| XR_939729.2:n.631A>G | ||
| NM_032601.4:c.466A>G MANE Select | NP_115990.3:p.Lys156Glu |