COSMIC:
COSM3750048 (not active)
COSM3750049 (not active)
COSM5826430 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10870905 (MID)
Genomes Max Group AF
0.09638275 (SAS)
Exomes Max Group AF
0.10971543 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86786671C>T , CM000669.2:g.86786671C>T | GRCh38 |
| NC_000007.13:g.86415987C>T , CM000669.1:g.86415987C>T | GRCh37 |
| NC_000007.12:g.86253923C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.879C>T MANE Select | ENSP00000355316.2:p.Ala293= | |
| ENST00000361669.6:c.879C>T | ENSP00000355316.2:p.Ala293= | |
| ENST00000439827.1:c.879C>T | ENSP00000398767.1:p.Ala293= | |
| ENST00000454217.1:c.495C>T | ENSP00000405427.1:p.Ala165= | |
| NM_000840.2:c.879C>T | NP_000831.2:p.Ala293= | |
| XM_011516088.1:c.879C>T | XP_011514390.1:p.Ala293= | |
| XM_011516089.1:c.879C>T | XP_011514391.1:p.Ala293= | |
| XM_011516090.1:c.879C>T | XP_011514392.1:p.Ala293= | |
| XR_927721.1:n.1425+6516G>A | ||
| NM_001363522.1:c.879C>T | NP_001350451.1:p.Ala293= | |
| XM_017012073.2:c.879C>T | XP_016867562.1:p.Ala293= | |
| XR_002956570.1:n.90+6516G>A | ||
| XR_002956571.1:n.88+7949G>A | ||
| NM_000840.3:c.879C>T MANE Select | NP_000831.2:p.Ala293= | |
| NM_001363522.2:c.879C>T | NP_001350451.1:p.Ala293= |