COSMIC:
COSM150166 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51596425 (EAS)
Genomes Max Group AF
0.51042671 (EAS)
Exomes Max Group AF
0.51491715 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116792862G>A , CM000668.2:g.116792862G>A | GRCh38 |
| NC_000006.11:g.117114025G>A , CM000668.1:g.117114025G>A | GRCh37 |
| NC_000006.10:g.117220718G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310357.8:c.2061C>T MANE Select | ENSP00000309493.4:p.Ala687= | |
| ENST00000310357.7:c.2061C>T | ENSP00000309493.3:p.Ala687= | |
| ENST00000368549.7:c.1848C>T | ENSP00000357537.3:p.Ala616= | |
| ENST00000530250.1:c.1536C>T | ENSP00000433465.1:p.Ala512= | |
| NM_001286354.1:c.1536C>T | NP_001273283.1:p.Ala512= | |
| NM_001286355.1:c.1848C>T | NP_001273284.1:p.Ala616= | |
| NM_148963.3:c.2061C>T | NP_683766.2:p.Ala687= | |
| XM_017010475.1:c.1920C>T | XP_016865964.1:p.Ala640= | |
| NM_148963.4:c.2061C>T MANE Select | NP_683766.2:p.Ala687= |