Linked Data
ClinVar Variation Id:
1030694
ClinVar RCV Id:
RCV001332308
dbSNP Id:
rs746892773
ExAC:
1:33245821 C / T
gnomAD v2:
1-33245821-C-T
gnomAD v3:
1-32780220-C-T
gnomAD v4:
1-32780220-C-T
COSMIC:
COSM4741810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780220C>T , CM000663.2:g.32780220C>T | GRCh38 |
| NC_000001.10:g.33245821C>T , CM000663.1:g.33245821C>T | GRCh37 |
| NC_000001.9:g.33018408C>T | NCBI36 |
| NG_008408.1:g.42813G>A , LRG_273:g.42813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1052G>A | ENSP00000502019.1:p.Arg351Gln | |
| ENST00000373477.9:c.1199G>A MANE Select | ENSP00000362576.4:p.Arg400Gln | |
| ENST00000674629.1:c.*747G>A | ENSP00000502470.1:n.*747G>A | |
| ENST00000674654.1:c.*1159G>A | ENSP00000501729.1:n.*1159G>A | |
| ENST00000675785.1:c.1052G>A | ENSP00000502019.1:p.Arg351Gln | |
| ENST00000676297.1:c.*1373G>A | ENSP00000501596.1:n.*1373G>A | |
| ENST00000373477.8:c.1199G>A | ENSP00000362576.4:p.Arg400Gln | |
| ENST00000469100.5:n.1115G>A | ||
| ENST00000478828.1:n.666G>A | ||
| ENST00000487404.5:n.1509G>A | ||
| ENST00000490826.1:n.492G>A | ||
| NM_003680.3:c.1199G>A , LRG_273t1:c.1199G>A | NP_003671.1:p.Arg400Gln | |
| XM_011542347.1:c.569G>A | XP_011540649.1:p.Arg190Gln | |
| XM_011542348.1:c.569G>A | XP_011540650.1:p.Arg190Gln | |
| XM_011542347.2:c.569G>A | XP_011540649.1:p.Arg190Gln | |
| XM_017002651.2:c.569G>A | XP_016858140.1:p.Arg190Gln | |
| NM_003680.4:c.1199G>A MANE Select | NP_003671.1:p.Arg400Gln |