COSMIC:
COSM3760499 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49861502 (AFR)
Genomes Max Group AF
0.49590934 (AFR)
Exomes Max Group AF
0.49805441 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.182894535A>G , CM000666.2:g.182894535A>G | GRCh38 |
| NC_000004.11:g.183815688A>G , CM000666.1:g.183815688A>G | GRCh37 |
| NC_000004.10:g.184052682A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438320.7:c.315T>C MANE Select | ENSP00000398194.2:p.Val105= | |
| ENST00000357067.7:c.348T>C | ENSP00000349576.3:p.Val116= | |
| ENST00000438320.6:c.315T>C | ENSP00000398194.2:p.Val105= | |
| ENST00000500813.6:c.*53T>C | ENSP00000425462.1:n.*53T>C | |
| ENST00000503182.5:c.315T>C | ENSP00000422662.1:p.Val105= | |
| ENST00000507543.5:c.*325T>C | ENSP00000422386.1:n.*325T>C | |
| ENST00000507631.5:c.*53T>C | ENSP00000425287.1:n.*53T>C | |
| ENST00000510307.5:c.315T>C | ENSP00000424050.1:p.Val105= | |
| ENST00000510370.5:c.315T>C | ENSP00000424017.1:p.Val105= | |
| ENST00000512766.5:c.315T>C | ENSP00000423182.1:p.Val105= | |
| NM_001012732.1:c.348T>C | NP_001012750.1:p.Val116= | |
| NM_001921.2:c.315T>C | NP_001912.2:p.Val105= | |
| XM_005262778.2:c.348T>C | XP_005262835.1:p.Val116= | |
| XM_005262779.2:c.315T>C | XP_005262836.1:p.Val105= | |
| XM_005262780.2:c.315T>C | XP_005262837.1:p.Val105= | |
| XM_005262781.3:c.138T>C | XP_005262838.1:p.Val46= | |
| XM_005262782.2:c.138T>C | XP_005262839.1:p.Val46= | |
| XM_006714115.2:c.138T>C | XP_006714178.1:p.Val46= | |
| XM_006714116.2:c.138T>C | XP_006714179.1:p.Val46= | |
| XM_011531674.1:c.315T>C | XP_011529976.1:p.Val105= | |
| XM_011531675.1:c.138T>C | XP_011529977.1:p.Val46= | |
| XM_011531676.1:c.138T>C | XP_011529978.1:p.Val46= | |
| XM_011531677.1:c.138T>C | XP_011529979.1:p.Val46= | |
| NM_001351743.1:c.315T>C | NP_001338672.1:p.Val105= | |
| NM_001351744.1:c.315T>C | NP_001338673.1:p.Val105= | |
| NM_001351745.1:c.315T>C | NP_001338674.1:p.Val105= | |
| NM_001351747.1:c.315T>C | NP_001338676.1:p.Val105= | |
| NM_001351748.1:c.315T>C | NP_001338677.1:p.Val105= | |
| NM_001351750.1:c.315T>C | NP_001338679.1:p.Val105= | |
| NM_001351753.1:c.315T>C | NP_001338682.1:p.Val105= | |
| XM_005262778.3:c.348T>C | XP_005262835.1:p.Val116= | |
| XM_005262781.4:c.138T>C | XP_005262838.1:p.Val46= | |
| XM_005262782.3:c.138T>C | XP_005262839.1:p.Val46= | |
| XM_006714115.3:c.138T>C | XP_006714178.1:p.Val46= | |
| XM_006714116.4:c.138T>C | XP_006714179.1:p.Val46= | |
| XM_011531674.3:c.315T>C | XP_011529976.1:p.Val105= | |
| XM_011531675.3:c.138T>C | XP_011529977.1:p.Val46= | |
| XM_011531676.3:c.138T>C | XP_011529978.1:p.Val46= | |
| XM_017007820.2:c.315T>C | XP_016863309.1:p.Val105= | |
| XM_017007822.1:c.315T>C | XP_016863311.1:p.Val105= | |
| XM_017007823.1:c.138T>C | XP_016863312.1:p.Val46= | |
| XM_017007824.1:c.138T>C | XP_016863313.1:p.Val46= | |
| NM_001012732.2:c.348T>C | NP_001012750.1:p.Val116= | |
| NM_001351743.2:c.315T>C | NP_001338672.1:p.Val105= | |
| NM_001351744.2:c.315T>C | NP_001338673.1:p.Val105= | |
| NM_001351745.2:c.315T>C | NP_001338674.1:p.Val105= | |
| NM_001351747.2:c.315T>C | NP_001338676.1:p.Val105= | |
| NM_001351748.2:c.315T>C | NP_001338677.1:p.Val105= | |
| NM_001351750.2:c.315T>C | NP_001338679.1:p.Val105= | |
| NM_001351753.2:c.315T>C | NP_001338682.1:p.Val105= | |
| NM_001921.3:c.315T>C MANE Select | NP_001912.2:p.Val105= |