gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14633823 (AFR)
Genomes Max Group AF
0.14487431 (AFR)
Exomes Max Group AF
0.14603333 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88845674C>T , CM000677.2:g.88845674C>T | GRCh38 |
| NC_000015.9:g.89388905C>T , CM000677.1:g.89388905C>T | GRCh37 |
| NC_000015.8:g.87189909C>T | NCBI36 |
| NG_012794.1:g.47232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439576.7:c.1221C>T | ENSP00000387356.2:p.Val407= | |
| ENST00000560601.4:c.1221C>T MANE Select | ENSP00000453581.2:p.Val407= | |
| ENST00000561243.7:c.1221C>T | ENSP00000453342.3:p.Val407= | |
| ENST00000352105.11:c.1221C>T | ENSP00000341615.7:p.Val407= | |
| ENST00000439576.6:c.1221C>T | ENSP00000387356.2:p.Val407= | |
| ENST00000558207.5:c.1221C>T | ENSP00000453003.1:p.Val407= | |
| ENST00000559004.5:c.1221C>T | ENSP00000453499.1:p.Val407= | |
| ENST00000561243.5:c.1221C>T | ENSP00000453342.1:p.Val407= | |
| ENST00000617301.4:c.1221C>T | ENSP00000484456.1:p.Val407= | |
| NM_001135.3:c.1221C>T | NP_001126.3:p.Val407= | |
| NM_013227.3:c.1221C>T | NP_037359.3:p.Val407= | |
| XM_006720419.1:c.1221C>T | XP_006720482.1:p.Val407= | |
| XM_011521313.1:c.1221C>T | XP_011519615.1:p.Val407= | |
| XM_011521314.1:c.1221C>T | XP_011519616.1:p.Val407= | |
| NM_001369268.1:c.1221C>T MANE Select | NP_001356197.1:p.Val407= | |
| NM_001135.4:c.1221C>T | NP_001126.3:p.Val407= | |
| NM_013227.4:c.1221C>T | NP_037359.3:p.Val407= |