Linked Data
ClinVar Variation Id:
533815
dbSNP Id:
rs587781250
gnomAD v4:
7-76303817-G-A
COSMIC:
COSM1210077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303817G>A , CM000669.2:g.76303817G>A | GRCh38 |
| NC_000007.13:g.75933134G>A , CM000669.1:g.75933134G>A | GRCh37 |
| NC_000007.12:g.75771070G>A | NCBI36 |
| NG_008995.1:g.6260G>A , LRG_248:g.6260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.380G>A MANE Select | ENSP00000248553.6:p.Arg127Gln | |
| ENST00000674547.1:c.380G>A | ENSP00000502461.1:p.Arg127Gln | |
| ENST00000674638.1:c.375G>A | ENSP00000502651.1:p.Ala125= | |
| ENST00000674650.1:c.365-167G>A | ENSP00000501628.1:n.365-167G>A | |
| ENST00000674965.1:c.*36G>A | ENSP00000501765.1:n.*36G>A | |
| ENST00000675134.1:c.380G>A | ENSP00000501831.1:p.Arg127Gln | |
| ENST00000675226.1:c.379G>A | ENSP00000502510.1:p.Gly127Ser | |
| ENST00000675417.1:n.613G>A | ||
| ENST00000675538.1:c.415G>A | ENSP00000502495.1:p.Gly139Ser | |
| ENST00000675906.1:c.380G>A | ENSP00000502714.1:p.Arg127Gln | |
| ENST00000676195.1:n.96G>A | ||
| ENST00000676231.1:c.410G>A | ENSP00000502249.1:p.Arg137Gln | |
| ENST00000248553.6:c.380G>A | ENSP00000248553.6:p.Arg127Gln | |
| ENST00000429938.1:c.-125G>A | ENSP00000405285.1:n.-125G>A | |
| ENST00000447574.1:c.*544G>A | ENSP00000414357.1:n.*544G>A | |
| NM_001540.3:c.380G>A , LRG_248t1:c.380G>A | NP_001531.1:p.Arg127Gln | |
| NM_001540.4:c.380G>A | NP_001531.1:p.Arg127Gln | |
| NM_001540.5:c.380G>A MANE Select | NP_001531.1:p.Arg127Gln |