Linked Data
ClinVar Variation Id:
1494994
dbSNP Id:
rs1386387112
gnomAD v2:
3-142232345-C-T
gnomAD v4:
3-142513503-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142513503C>T , CM000665.2:g.142513503C>T | GRCh38 |
| NC_000003.11:g.142232345C>T , CM000665.1:g.142232345C>T | GRCh37 |
| NC_000003.10:g.143715035C>T | NCBI36 |
| NG_008951.1:g.70324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.4639G>A MANE Select | ENSP00000343741.4:p.Glu1547Lys | |
| ENST00000653868.1:n.4668G>A | ||
| ENST00000656590.1:c.3429G>A | ||
| ENST00000661310.1:c.4447G>A | ENSP00000499589.1:p.Glu1483Lys | |
| ENST00000666943.1:n.103G>A | ||
| ENST00000350721.8:c.4639G>A | ENSP00000343741.4:p.Glu1547Lys | |
| NM_001184.3:c.4639G>A | NP_001175.2:p.Glu1547Lys | |
| XM_011512924.1:c.4645G>A | XP_011511226.1:p.Glu1549Lys | |
| XM_011512925.1:c.4453G>A | XP_011511227.1:p.Glu1485Lys | |
| XM_011512926.1:c.4645G>A | XP_011511228.1:p.Glu1549Lys | |
| XM_011512927.1:c.4645G>A | XP_011511229.1:p.Glu1549Lys | |
| XR_924147.1:n.4734G>A | ||
| XR_924148.1:n.4734G>A | ||
| XR_924149.1:n.4734G>A | ||
| NM_001354579.1:c.4447G>A | NP_001341508.1:p.Glu1483Lys | |
| XR_001740179.2:n.4728G>A | ||
| XR_001740180.2:n.4734G>A | ||
| XR_001740181.2:n.4734G>A | ||
| XR_001740182.1:n.4734G>A | ||
| XR_002959543.1:n.4734G>A | ||
| XR_924148.2:n.4734G>A | ||
| NM_001184.4:c.4639G>A MANE Select | NP_001175.2:p.Glu1547Lys | |
| NM_001354579.2:c.4447G>A | NP_001341508.1:p.Glu1483Lys |