Linked Data
ClinVar Variation Id:
527751
dbSNP Id:
rs1240316419
gnomAD v2:
11-1782666-C-T
gnomAD v3:
11-1761436-C-T
gnomAD v4:
11-1761436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1761436C>T , CM000673.2:g.1761436C>T | GRCh38 |
| NC_000011.9:g.1782666C>T , CM000673.1:g.1782666C>T | GRCh37 |
| NC_000011.8:g.1739242C>T | NCBI36 |
| NG_008655.1:g.7557G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.101G>A MANE Select | ENSP00000236671.2:p.Arg34Gln | |
| ENST00000367196.4:c.-5G>A | ENSP00000356164.4:n.-5G>A | |
| ENST00000429746.2:c.-5G>A | ENSP00000402586.2:n.-5G>A | |
| ENST00000433655.6:c.101G>A | ENSP00000404902.1:p.Arg34Gln | |
| ENST00000438213.6:c.101G>A | ENSP00000415036.2:p.Arg34Gln | |
| ENST00000636397.1:c.101G>A | ENSP00000489910.1:p.Arg34Gln | |
| ENST00000636571.1:c.101G>A | ENSP00000490770.1:p.Arg34Gln | |
| ENST00000636615.1:c.101G>A | ENSP00000490014.1:p.Arg34Gln | |
| ENST00000636843.1:c.101G>A | ENSP00000490897.1:p.Arg34Gln | |
| ENST00000637381.2:n.2529G>A | ||
| ENST00000637387.1:c.101G>A | ENSP00000490598.1:p.Arg34Gln | |
| ENST00000637815.2:c.101G>A | ENSP00000490344.1:p.Arg34Gln | |
| ENST00000637915.1:c.101G>A | ENSP00000490471.1:p.Arg34Gln | |
| ENST00000678991.1:c.244G>A | ENSP00000503019.1:p.Gly82Arg | |
| ENST00000236671.6:c.101G>A | ENSP00000236671.2:p.Arg34Gln | |
| ENST00000367196.3:c.-5G>A | ENSP00000356164.3:n.-5G>A | |
| ENST00000433655.5:c.101G>A | ENSP00000404902.1:p.Arg34Gln | |
| ENST00000438213.5:c.56G>A | ENSP00000415036.1:p.Arg19Gln | |
| NM_001909.4:c.101G>A | NP_001900.1:p.Arg34Gln | |
| NM_001909.5:c.101G>A MANE Select | NP_001900.1:p.Arg34Gln |