ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00217713 (AFR)
Genomes Max Group AF
0.00189594 (AFR)
Exomes Max Group AF
0.00226662 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44676080C>T , CM000669.2:g.44676080C>T | GRCh38 |
| NC_000007.13:g.44715679C>T , CM000669.1:g.44715679C>T | GRCh37 |
| NC_000007.12:g.44682204C>T | NCBI36 |
| NG_023260.1:g.74559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447398.6:c.1170C>T | ENSP00000388183.1:p.Ala390= | |
| ENST00000222673.6:c.1137C>T MANE Select | ENSP00000222673.5:p.Ala379= | |
| ENST00000222673.5:c.1137C>T | ENSP00000222673.5:p.Ala379= | |
| ENST00000439616.6:c.687C>T | ENSP00000398576.2:p.Ala229= | |
| ENST00000443864.6:c.1137C>T | ENSP00000388084.2:p.Ala379= | |
| ENST00000444676.5:c.1182C>T | ENSP00000414662.1:p.Ala394= | |
| ENST00000447398.5:c.1170C>T | ENSP00000388183.1:p.Ala390= | |
| ENST00000449767.5:c.1125C>T | ENSP00000392878.1:p.Ala375= | |
| ENST00000631326.2:c.1137C>T | ENSP00000486854.1:p.Ala379= | |
| NM_001003941.2:c.1137C>T | NP_001003941.1:p.Ala379= | |
| NM_001165036.1:c.1125C>T | NP_001158508.1:p.Ala375= | |
| NM_002541.3:c.1137C>T | NP_002532.2:p.Ala379= | |
| XM_005249759.3:c.1182C>T | XP_005249816.1:p.Ala394= | |
| XM_005249761.2:c.1170C>T | XP_005249818.1:p.Ala390= | |
| XM_011515408.1:c.1182C>T | XP_011513710.1:p.Ala394= | |
| NM_001363523.1:c.1170C>T | NP_001350452.1:p.Ala390= | |
| XM_005249759.5:c.1182C>T | XP_005249816.1:p.Ala394= | |
| XM_011515408.2:c.1182C>T | XP_011513710.1:p.Ala394= | |
| XM_024446783.1:c.522C>T | XP_024302551.1:p.Ala174= | |
| NM_002541.4:c.1137C>T MANE Select | NP_002532.2:p.Ala379= | |
| NM_001003941.3:c.1137C>T | NP_001003941.1:p.Ala379= | |
| NM_001165036.2:c.1125C>T | NP_001158508.1:p.Ala375= | |
| NM_001363523.2:c.1170C>T | NP_001350452.1:p.Ala390= |