ClinVar Variation:
COSMIC:
COSM5618791
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80788117 (AFR)
Genomes Max Group AF
0.79930261 (AFR)
Exomes Max Group AF
0.81352254 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550285A>G , CM000669.2:g.87550285A>G | GRCh38 |
| NC_000007.13:g.87179601A>G , CM000669.1:g.87179601A>G | GRCh37 |
| NC_000007.12:g.87017537A>G | NCBI36 |
| NG_011513.1:g.167964T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1236T>C | ENSP00000265724.3:p.Gly412= | |
| ENST00000622132.5:c.1236T>C MANE Select | ENSP00000478255.1:p.Gly412= | |
| ENST00000265724.7:c.1236T>C | ENSP00000265724.3:p.Gly412= | |
| ENST00000543898.5:c.1044T>C | ENSP00000444095.1:p.Gly348= | |
| ENST00000622132.4:c.1236T>C | ENSP00000478255.1:p.Gly412= | |
| NM_000927.4:c.1236T>C | NP_000918.2:p.Gly412= | |
| NM_001348944.1:c.1236T>C | NP_001335873.1:p.Gly412= | |
| NM_001348945.1:c.1446T>C | NP_001335874.1:p.Gly482= | |
| NM_001348946.1:c.1236T>C | NP_001335875.1:p.Gly412= | |
| NM_001348946.2:c.1236T>C MANE Select | NP_001335875.1:p.Gly412= | |
| NM_000927.5:c.1236T>C | NP_000918.2:p.Gly412= | |
| NM_001348944.2:c.1236T>C | NP_001335873.1:p.Gly412= | |
| NM_001348945.2:c.1446T>C | NP_001335874.1:p.Gly482= |