COSMIC:
COSM3766401 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53858424 (AMR)
Genomes Max Group AF
0.49025448 (NFE)
Exomes Max Group AF
0.56086555 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49010016C>T , CM000681.2:g.49010016C>T | GRCh38 |
| NC_000019.9:g.49513273C>T , CM000681.1:g.49513273C>T | GRCh37 |
| NC_000019.8:g.54205085C>T | NCBI36 |
| NG_033041.1:g.21118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595090.6:c.613C>T MANE Select | ENSP00000473172.1:p.Leu205= | |
| ENST00000221413.10:c.602C>T | ENSP00000221413.6:p.Ala201Val | |
| ENST00000594017.5:n.635C>T | ||
| ENST00000594338.1:n.601C>T | ||
| ENST00000595090.5:c.613C>T | ENSP00000473172.1:p.Leu205= | |
| ENST00000596247.5:c.*530C>T | ENSP00000471538.1:n.*530C>T | |
| ENST00000601968.5:c.478C>T | ENSP00000471524.1:p.Leu160= | |
| ENST00000627972.1:c.478C>T | ENSP00000486242.1:p.Leu160= | |
| NM_006666.1:c.613C>T | NP_006657.1:p.Leu205= | |
| XM_005258426.2:c.511C>T | XP_005258483.1:p.Leu171= | |
| XM_005258427.1:c.511C>T | XP_005258484.1:p.Leu171= | |
| XM_005258428.2:c.478C>T | XP_005258485.1:p.Leu160= | |
| XM_011526330.1:c.478C>T | XP_011524632.1:p.Leu160= | |
| NM_001321190.1:c.511C>T | NP_001308119.1:p.Leu171= | |
| NM_001321191.1:c.478C>T | NP_001308120.1:p.Leu160= | |
| NM_006666.2:c.613C>T | NP_006657.1:p.Leu205= | |
| NR_135578.1:n.1066C>T | ||
| NM_006666.3:c.613C>T MANE Select | NP_006657.1:p.Leu205= | |
| NM_001321190.2:c.511C>T | NP_001308119.1:p.Leu171= | |
| NR_135578.2:n.627C>T |