Linked Data
ClinVar Variation Id:
17781
ClinVar RCV Id:
RCV000019359
dbSNP Id:
rs121912756
ExAC:
17:42334906 C / T
gnomAD v2:
17-42334906-C-T
gnomAD v4:
17-44257538-C-T
PubMed:
PMID:11061863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44257538C>T , CM000679.2:g.44257538C>T | GRCh38 |
| NC_000017.10:g.42334906C>T , CM000679.1:g.42334906C>T | GRCh37 |
| NC_000017.9:g.39690432C>T | NCBI36 |
| NG_007498.1:g.15597G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.1438G>A MANE Select | ENSP00000262418.6:p.Glu480Lys | |
| ENST00000262418.10:c.1438G>A | ENSP00000262418.6:p.Glu480Lys | |
| ENST00000399246.3:c.777+1724G>A | ENSP00000382190.3:n.777+1724G>A | |
| ENST00000497360.5:n.1577G>A | ||
| NM_000342.3:c.1438G>A | NP_000333.1:p.Glu480Lys | |
| XM_005257593.3:c.1243G>A | XP_005257650.1:p.Glu415Lys | |
| XM_011525129.1:c.1438G>A | XP_011523431.1:p.Glu480Lys | |
| XM_011525130.1:c.1438G>A | XP_011523432.1:p.Glu480Lys | |
| XM_011525131.1:c.1438G>A | XP_011523433.1:p.Glu480Lys | |
| XM_005257593.5:c.1243G>A | XP_005257650.1:p.Glu415Lys | |
| XM_011525129.2:c.1438G>A | XP_011523431.1:p.Glu480Lys | |
| NM_000342.4:c.1438G>A MANE Select | NP_000333.1:p.Glu480Lys |