COSMIC:
COSM4001476 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44472696 (AFR)
Genomes Max Group AF
0.43765147 (AFR)
Exomes Max Group AF
0.44982511 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206141952T>C , CM000664.2:g.206141952T>C | GRCh38 |
| NC_000002.11:g.207006676T>C , CM000664.1:g.207006676T>C | GRCh37 |
| NC_000002.10:g.206714921T>C | NCBI36 |
| NG_009248.1:g.22512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1251A>G MANE Select | ENSP00000233190.5:p.Arg417= | |
| ENST00000233190.10:c.1251A>G | ENSP00000233190.5:p.Arg417= | |
| ENST00000423725.5:c.1080A>G | ENSP00000397760.1:p.Arg360= | |
| ENST00000432169.5:c.918A>G | ENSP00000409689.1:p.Arg306= | |
| ENST00000440274.5:c.1143A>G | ENSP00000409766.1:p.Arg381= | |
| ENST00000449699.5:c.1251A>G | ENSP00000399912.1:p.Arg417= | |
| ENST00000455934.6:c.1293A>G | ENSP00000392709.2:p.Arg431= | |
| ENST00000457011.5:c.903A>G | ENSP00000400976.1:p.Arg301= | |
| NM_001199981.1:c.1143A>G | NP_001186910.1:p.Arg381= | |
| NM_001199982.1:c.918A>G | NP_001186911.1:p.Arg306= | |
| NM_001199983.1:c.1080A>G | NP_001186912.1:p.Arg360= | |
| NM_001199984.1:c.1293A>G | NP_001186913.1:p.Arg431= | |
| NM_005006.6:c.1251A>G | NP_004997.4:p.Arg417= | |
| XM_017004188.2:c.492A>G | XP_016859677.1:p.Arg164= | |
| NM_001199981.2:c.1143A>G | NP_001186910.1:p.Arg381= | |
| NM_001199982.2:c.918A>G | NP_001186911.1:p.Arg306= | |
| NM_001199983.2:c.1080A>G | NP_001186912.1:p.Arg360= | |
| NM_005006.7:c.1251A>G MANE Select | NP_004997.4:p.Arg417= | |
| NM_001199984.2:c.1293A>G | NP_001186913.1:p.Arg431= |