Linked Data
ClinVar Variation Id:
791038
ClinVar RCV Id:
RCV000973945
dbSNP Id:
rs111983452
ExAC:
13:50056926 G / A
gnomAD v2:
13-50056926-G-A
gnomAD v3:
13-49482790-G-A
gnomAD v4:
13-49482790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49482790G>A , CM000675.2:g.49482790G>A | GRCh38 |
| NC_000013.10:g.50056926G>A , CM000675.1:g.50056926G>A | GRCh37 |
| NC_000013.9:g.48954927G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611815.2:c.1210G>A MANE Select | ENSP00000482240.2:p.Gly404Arg | |
| ENST00000258672.9:c.1210G>A | ENSP00000258672.4:p.Gly404Arg | |
| ENST00000317257.12:c.1210G>A | ENSP00000326477.9:p.Gly404Arg | |
| ENST00000354234.8:c.1246G>A | ENSP00000346175.5:p.Gly416Arg | |
| ENST00000611815.1:c.1246G>A | ENSP00000482240.1:p.Gly416Arg | |
| NM_001160308.1:c.1210G>A | NP_001153780.1:p.Gly404Arg | |
| NM_031915.2:c.1246G>A | NP_114121.2:p.Gly416Arg | |
| XM_005266568.3:c.1210G>A | XP_005266625.1:p.Gly404Arg | |
| XM_005266569.3:c.1174G>A | XP_005266626.1:p.Gly392Arg | |
| XM_005266572.3:c.643G>A | XP_005266629.1:p.Gly215Arg | |
| XM_011535269.1:c.1246G>A | XP_011533571.1:p.Gly416Arg | |
| XM_011535270.1:c.1246G>A | XP_011533572.1:p.Gly416Arg | |
| XM_011535271.1:c.1210G>A | XP_011533573.1:p.Gly404Arg | |
| XM_011535272.1:c.1210G>A | XP_011533574.1:p.Gly404Arg | |
| XM_011535273.1:c.1246G>A | XP_011533575.1:p.Gly416Arg | |
| XM_011535274.1:c.1246G>A | XP_011533576.1:p.Gly416Arg | |
| XM_011535275.1:c.1246G>A | XP_011533577.1:p.Gly416Arg | |
| XM_011535276.1:c.376G>A | XP_011533578.1:p.Gly126Arg | |
| XR_941678.1:n.2152G>A | ||
| XR_941680.1:n.2152G>A | ||
| NM_001160308.2:c.1210G>A | NP_001153780.1:p.Gly404Arg | |
| NM_001320699.1:c.1210G>A | NP_001307628.1:p.Gly404Arg | |
| NM_001320727.1:c.1210G>A | NP_001307656.1:p.Gly404Arg | |
| NR_135324.1:n.2282G>A | ||
| NM_001160308.3:c.1210G>A MANE Select | NP_001153780.1:p.Gly404Arg | |
| NM_001320699.2:c.1210G>A | NP_001307628.1:p.Gly404Arg | |
| NM_001320727.2:c.1210G>A | NP_001307656.1:p.Gly404Arg | |
| NM_031915.3:c.1246G>A | NP_114121.2:p.Gly416Arg | |
| NR_135324.2:n.2301G>A | ||
| NM_001393975.1:c.1174G>A | NP_001380904.1:p.Gly392Arg | |
| NM_001393976.1:c.1210G>A | NP_001380905.1:p.Gly404Arg | |
| NM_001393977.1:c.1246G>A | NP_001380906.1:p.Gly416Arg | |
| NM_001393978.1:c.1174G>A | NP_001380907.1:p.Gly392Arg | |
| NM_001393979.1:c.1210G>A | NP_001380908.1:p.Gly404Arg | |
| NM_001393980.1:c.1174G>A | NP_001380909.1:p.Gly392Arg | |
| NR_172062.1:n.2301G>A |