Linked Data
ClinVar Variation Id:
538667
dbSNP Id:
rs763185312
ExAC:
7:157208749 G / A
gnomAD v2:
7-157208749-G-A
gnomAD v3:
7-157416055-G-A
gnomAD v4:
7-157416055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416055G>A , CM000669.2:g.157416055G>A | GRCh38 |
| NC_000007.13:g.157208749G>A , CM000669.1:g.157208749G>A | GRCh37 |
| NC_000007.12:g.156901510G>A | NCBI36 |
| NG_032573.1:g.84040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.938G>A MANE Select | ENSP00000262177.4:p.Arg313Lys | |
| ENST00000262177.8:c.938G>A | ENSP00000262177.4:p.Arg313Lys | |
| ENST00000443280.5:c.593G>A | ENSP00000396267.1:p.Arg198Lys | |
| ENST00000459889.5:c.*5461G>A | ENSP00000488263.1:n.*5461G>A | |
| NM_058246.3:c.938G>A | NP_490647.1:p.Arg313Lys | |
| XM_006715823.1:c.731G>A | XP_006715886.1:p.Arg244Lys | |
| NM_001363676.1:c.593G>A | NP_001350605.1:p.Arg198Lys | |
| XM_006715823.2:c.731G>A | XP_006715886.1:p.Arg244Lys | |
| NM_058246.4:c.938G>A MANE Select | NP_490647.1:p.Arg313Lys |