COSMIC:
COSM4143411 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.787923 (EAS)
Genomes Max Group AF
0.78617737 (EAS)
Exomes Max Group AF
0.78596119 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226385663A>G , CM000663.2:g.226385663A>G | GRCh38 |
| NC_000001.10:g.226573364A>G , CM000663.1:g.226573364A>G | GRCh37 |
| NC_000001.9:g.224639987A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366794.10:c.852T>C MANE Select | ENSP00000355759.5:p.Ala284= | |
| ENST00000676685.1:n.1077T>C | ||
| ENST00000676709.1:n.1077T>C | ||
| ENST00000677091.1:c.852T>C | ENSP00000504745.1:p.Ala284= | |
| ENST00000677203.1:c.852T>C | ENSP00000503396.1:p.Ala284= | |
| ENST00000677374.1:n.1135T>C | ||
| ENST00000677884.1:n.1664T>C | ||
| ENST00000678144.1:c.852T>C | ENSP00000504430.1:p.Ala284= | |
| ENST00000678560.1:c.*840T>C | ENSP00000503293.1:n.*840T>C | |
| ENST00000678781.1:n.1077T>C | ||
| ENST00000679276.1:n.1077T>C | ||
| ENST00000366794.9:c.852T>C | ENSP00000355759.5:p.Ala284= | |
| NM_001618.3:c.852T>C | NP_001609.2:p.Ala284= | |
| NM_001618.4:c.852T>C MANE Select | NP_001609.2:p.Ala284= |