COSMIC:
COSM3982275 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31185646 (AFR)
Genomes Max Group AF
0.30649299 (AFR)
Exomes Max Group AF
0.31539567 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87450090T>A , CM000669.2:g.87450090T>A | GRCh38 |
| NC_000007.13:g.87079406T>A , CM000669.1:g.87079406T>A | GRCh37 |
| NC_000007.12:g.86917342T>A | NCBI36 |
| NG_007118.1:g.35343A>T | |
| NG_007118.2:g.35343A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.711A>T | ENSP00000352135.3:p.Ile237= | |
| ENST00000643670.1:c.654A>T | ENSP00000496629.1:p.Ile218= | |
| ENST00000644106.1:c.*175A>T | ENSP00000493477.1:n.*175A>T | |
| ENST00000649586.2:c.711A>T MANE Select | ENSP00000496956.2:p.Ile237= | |
| ENST00000265723.8:c.711A>T | ENSP00000265723.4:p.Ile237= | |
| ENST00000358400.7:c.711A>T | ENSP00000351172.3:p.Ile237= | |
| ENST00000359206.7:c.711A>T | ENSP00000352135.3:p.Ile237= | |
| ENST00000453593.5:c.711A>T | ENSP00000392983.1:p.Ile237= | |
| NM_000443.3:c.711A>T | NP_000434.1:p.Ile237= | |
| NM_018849.2:c.711A>T | NP_061337.1:p.Ile237= | |
| NM_018850.2:c.711A>T | NP_061338.1:p.Ile237= | |
| XM_011516308.1:c.711A>T | XP_011514610.1:p.Ile237= | |
| XM_011516309.1:c.711A>T | XP_011514611.1:p.Ile237= | |
| XM_011516310.1:c.711A>T | XP_011514612.1:p.Ile237= | |
| XM_011516311.1:c.711A>T | XP_011514613.1:p.Ile237= | |
| XM_011516312.1:c.711A>T | XP_011514614.1:p.Ile237= | |
| XM_011516313.1:c.711A>T | XP_011514615.1:p.Ile237= | |
| XM_011516314.1:c.732A>T | XP_011514616.1:p.Ile244= | |
| XM_011516315.1:c.51A>T | XP_011514617.1:p.Ile17= | |
| XR_927478.1:n.807A>T | ||
| XM_011516308.3:c.981A>T | XP_011514610.3:p.Ile327= | |
| XM_011516309.3:c.981A>T | XP_011514611.3:p.Ile327= | |
| XM_011516310.3:c.981A>T | XP_011514612.3:p.Ile327= | |
| XM_011516311.3:c.981A>T | XP_011514613.3:p.Ile327= | |
| XM_011516312.3:c.981A>T | XP_011514614.3:p.Ile327= | |
| XM_011516313.3:c.981A>T | XP_011514615.2:p.Ile327= | |
| XM_011516315.3:c.51A>T | XP_011514617.2:p.Ile17= | |
| XM_017012323.2:c.711A>T | XP_016867812.1:p.Ile237= | |
| XR_001744809.2:n.1482A>T | ||
| XR_001744810.2:n.1477A>T | ||
| NM_000443.4:c.711A>T MANE Select | NP_000434.1:p.Ile237= | |
| NM_018849.3:c.711A>T | NP_061337.1:p.Ile237= | |
| NM_018850.3:c.711A>T | NP_061338.1:p.Ile237= |