Linked Data
ClinVar Variation Id:
1209973
ClinVar RCV Id:
RCV001579640
dbSNP Id:
rs117260922
ExAC:
11:121367627 G / A
gnomAD v2:
11-121367627-G-A
gnomAD v3:
11-121496918-G-A
gnomAD v4:
11-121496918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121496918G>A , CM000673.2:g.121496918G>A | GRCh38 |
| NC_000011.9:g.121367627G>A , CM000673.1:g.121367627G>A | GRCh37 |
| NC_000011.8:g.120872837G>A | NCBI36 |
| NG_023313.1:g.49667G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.808G>A MANE Select | ENSP00000260197.6:p.Glu270Lys | |
| ENST00000260197.11:c.808G>A | ENSP00000260197.6:p.Glu270Lys | |
| ENST00000532451.1:n.760G>A | ||
| NM_003105.5:c.808G>A | NP_003096.1:p.Glu270Lys | |
| XM_011542963.1:c.808G>A | XP_011541265.1:p.Glu270Lys | |
| XM_011542964.1:c.808G>A | XP_011541266.1:p.Glu270Lys | |
| XM_011542963.3:c.808G>A | XP_011541265.1:p.Glu270Lys | |
| XM_017018169.2:c.496G>A | XP_016873658.1:p.Glu166Lys | |
| XM_017018170.2:c.283G>A | XP_016873659.1:p.Glu95Lys | |
| XM_017018171.1:c.808G>A | XP_016873660.1:p.Glu270Lys | |
| NM_003105.6:c.808G>A MANE Select | NP_003096.2:p.Glu270Lys |