Linked Data
ClinVar Variation Id:
2067301
dbSNP Id:
rs374932040
ExAC:
3:119133261 G / A
gnomAD v2:
3-119133261-G-A
gnomAD v3:
3-119414414-G-A
gnomAD v4:
3-119414414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414414G>A , CM000665.2:g.119414414G>A | GRCh38 |
| NC_000003.11:g.119133261G>A , CM000665.1:g.119133261G>A | GRCh37 |
| NC_000003.10:g.120615951G>A | NCBI36 |
| NG_007665.2:g.125042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2485G>A MANE Select | ENSP00000264245.4:p.Glu829Lys | |
| ENST00000264245.8:c.2485G>A | ENSP00000264245.4:p.Glu829Lys | |
| NM_020754.3:c.2485G>A | NP_065805.2:p.Glu829Lys | |
| XM_005247671.3:c.2392G>A | XP_005247728.1:p.Glu798Lys | |
| XM_006713714.2:c.2425G>A | XP_006713777.1:p.Glu809Lys | |
| XM_006713714.3:c.2425G>A | XP_006713777.1:p.Glu809Lys | |
| XM_017006955.1:c.1993G>A | XP_016862444.1:p.Glu665Lys | |
| NM_020754.4:c.2485G>A MANE Select | NP_065805.2:p.Glu829Lys |