COSMIC:
COSM147610 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25099488 (EAS)
Genomes Max Group AF
0.21965882 (EAS)
Exomes Max Group AF
0.25390746 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111672685T>C , CM000674.2:g.111672685T>C | GRCh38 |
| NC_000012.11:g.112110489T>C , CM000674.1:g.112110489T>C | GRCh37 |
| NC_000012.10:g.110594872T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419234.9:c.723A>G MANE Select | ENSP00000403524.3:p.Arg241= | |
| ENST00000327551.6:c.633A>G | ENSP00000330813.5:p.Arg211= | |
| ENST00000419234.8:c.723A>G | ENSP00000403524.3:p.Arg241= | |
| ENST00000547043.1:n.627A>G | ||
| NM_006768.4:c.723A>G | NP_006759.3:p.Arg241= | |
| XM_005253944.3:c.846A>G | XP_005254001.1:p.Arg282= | |
| XM_011538788.1:c.276A>G | XP_011537090.1:p.Arg92= | |
| XM_011538789.1:c.11A>G | XP_011537091.1:p.Glu4Gly | |
| XM_005253944.4:c.846A>G | XP_005254001.1:p.Arg282= | |
| XM_011538789.3:c.11A>G | XP_011537091.1:p.Glu4Gly | |
| XM_017019992.1:c.561A>G | XP_016875481.1:p.Arg187= | |
| XM_017019993.1:c.276A>G | XP_016875482.1:p.Arg92= | |
| XM_017019994.1:c.276A>G | XP_016875483.1:p.Arg92= | |
| XM_017019995.1:c.276A>G | XP_016875484.1:p.Arg92= | |
| NM_006768.5:c.723A>G MANE Select | NP_006759.3:p.Arg241= |