Linked Data
ClinVar Variation Id:
373703
ClinVar RCV Id:
RCV000414668
dbSNP Id:
rs1057518559
gnomAD v2:
6-30890923-G-A
gnomAD v3:
6-30923146-G-A
gnomAD v4:
6-30923146-G-A
COSMIC:
COSM73245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923146G>A , CM000668.2:g.30923146G>A | GRCh38 |
| NC_000006.11:g.30890923G>A , CM000668.1:g.30890923G>A | GRCh37 |
| NC_000006.10:g.30998902G>A | NCBI36 |
| NG_034224.1:g.13939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2228G>A | ENSP00000441000.2:p.Arg743Gln | |
| ENST00000672801.1:c.2222G>A | ENSP00000500615.1:p.Arg741Gln | |
| ENST00000676266.1:c.2228G>A MANE Select | ENSP00000502585.1:p.Arg743Gln | |
| ENST00000321897.9:c.2228G>A | ENSP00000316092.5:p.Arg743Gln | |
| ENST00000469358.5:n.2216G>A | ||
| ENST00000476162.5:n.1015G>A | ||
| ENST00000477052.1:n.314G>A | ||
| ENST00000477288.5:n.4841G>A | ||
| ENST00000541562.5:c.2318G>A | ENSP00000441000.1:p.Arg773Gln | |
| ENST00000542001.5:c.2222G>A | ENSP00000438200.2:p.Arg741Gln | |
| ENST00000625423.2:c.1808G>A | ENSP00000485818.1:p.Arg603Gln | |
| NM_001167733.2:c.1808G>A | NP_001161205.1:p.Arg603Gln | |
| NM_001167734.1:c.2318G>A | NP_001161206.1:p.Arg773Gln | |
| NM_020442.5:c.2228G>A | NP_065175.4:p.Arg743Gln | |
| NM_001167733.3:c.1808G>A | NP_001161205.1:p.Arg603Gln | |
| NM_001167734.2:c.2318G>A | NP_001161206.1:p.Arg773Gln | |
| NM_020442.6:c.2228G>A MANE Select | NP_065175.4:p.Arg743Gln |