Linked Data
ClinVar Variation Id:
2370067
ClinVar RCV Id:
RCV003004342
dbSNP Id:
rs146538664
ExAC:
17:76424614 C / T
gnomAD v2:
17-76424614-C-T
gnomAD v3:
17-78428533-C-T
gnomAD v4:
17-78428533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78428533C>T , CM000679.2:g.78428533C>T | GRCh38 |
| NC_000017.10:g.76424614C>T , CM000679.1:g.76424614C>T | GRCh37 |
| NC_000017.9:g.73936209C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12580G>A MANE Select | ENSP00000374490.6:p.Glu4194Lys | |
| ENST00000389840.6:c.12580G>A | ENSP00000374490.6:p.Glu4194Lys | |
| ENST00000585328.5:c.12565G>A | ENSP00000465516.1:p.Glu4189Lys | |
| ENST00000586052.5:n.5716G>A | ||
| ENST00000586850.1:n.120+588G>A | ||
| ENST00000590227.5:n.2254G>A | ||
| ENST00000591369.5:c.4182G>A | ||
| ENST00000592192.2:n.19G>A | ||
| NM_173628.3:c.12580G>A | NP_775899.3:p.Glu4194Lys | |
| XM_011525416.1:c.12592G>A | XP_011523718.1:p.Glu4198Lys | |
| XM_011525418.1:c.5959G>A | XP_011523720.1:p.Glu1987Lys | |
| XM_011525416.2:c.12592G>A | XP_011523718.1:p.Glu4198Lys | |
| XM_017025261.2:c.5926G>A | XP_016880750.1:p.Glu1976Lys | |
| XM_024451013.1:c.12448G>A | XP_024306781.1:p.Glu4150Lys | |
| NM_173628.4:c.12580G>A MANE Select | NP_775899.3:p.Glu4194Lys |