Linked Data
ClinVar Variation Id:
3175295
ClinVar RCV Id:
RCV004466624
dbSNP Id:
rs768085460
ExAC:
8:144657656 C / T
gnomAD v2:
8-144657656-C-T
gnomAD v4:
8-143575486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143575486C>T , CM000670.2:g.143575486C>T | GRCh38 |
| NC_000008.10:g.144657656C>T , CM000670.1:g.144657656C>T | GRCh37 |
| NC_000008.9:g.144728799C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1228G>A MANE Select | ENSP00000401508.2:p.Glu410Lys | |
| ENST00000340490.7:c.1228G>A | ENSP00000341136.3:p.Glu410Lys | |
| ENST00000426292.7:c.1228G>A | ENSP00000390949.3:p.Glu410Lys | |
| ENST00000435154.7:c.1228G>A | ENSP00000405670.3:p.Glu410Lys | |
| ENST00000449291.6:c.1228G>A | ENSP00000401508.2:p.Glu410Lys | |
| ENST00000460623.5:c.206G>A | ||
| ENST00000464332.5:n.772G>A | ||
| ENST00000525583.5:c.1012G>A | ||
| NM_001286829.1:c.1228G>A | NP_001273758.1:p.Glu410Lys | |
| NM_145201.5:c.1228G>A | NP_660202.3:p.Glu410Lys | |
| XM_011517377.1:c.1228G>A | XP_011515679.1:p.Glu410Lys | |
| NM_001363145.1:c.1147G>A | NP_001350074.1:p.Glu383Lys | |
| NM_001363146.1:c.544G>A | NP_001350075.1:p.Glu182Lys | |
| XM_017013975.2:c.1447G>A | XP_016869464.1:p.Glu483Lys | |
| XM_017013976.2:c.1447G>A | XP_016869465.1:p.Glu483Lys | |
| XM_017013977.2:c.1147G>A | XP_016869466.1:p.Glu383Lys | |
| XM_017013978.2:c.1447G>A | XP_016869467.1:p.Glu483Lys | |
| XM_017013979.2:c.544G>A | XP_016869468.1:p.Glu182Lys | |
| XM_024447332.1:c.865G>A | XP_024303100.1:p.Glu289Lys | |
| XM_024447333.1:c.463G>A | XP_024303101.1:p.Glu155Lys | |
| NM_145201.6:c.1228G>A MANE Select | NP_660202.3:p.Glu410Lys | |
| NM_001286829.2:c.1228G>A | NP_001273758.1:p.Glu410Lys |