gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00250559 (AFR)
Genomes Max Group AF
0.00262564 (AFR)
Exomes Max Group AF
0.00208216 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132329474A>G , CM000671.2:g.132329474A>G | GRCh38 |
| NC_000009.11:g.135204861A>G , CM000671.1:g.135204861A>G | GRCh37 |
| NC_000009.10:g.134194682A>G | NCBI36 |
| NG_007946.1:g.30512T>C , LRG_268:g.30512T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.2124T>C MANE Select | ENSP00000224140.5:p.Ser708= | |
| ENST00000224140.5:c.2124T>C | ENSP00000224140.5:p.Ser708= | |
| NM_015046.5:c.2124T>C , LRG_268t1:c.2124T>C | NP_055861.3:p.Ser708= | |
| XM_005272171.1:c.2124T>C | XP_005272228.1:p.Ser708= | |
| XM_005272172.1:c.2124T>C | XP_005272229.1:p.Ser708= | |
| XM_005272173.1:c.2124T>C | XP_005272230.1:p.Ser708= | |
| XM_011518404.1:c.2124T>C | XP_011516706.1:p.Ser708= | |
| XM_011518405.1:c.2124T>C | XP_011516707.1:p.Ser708= | |
| XM_011518406.1:c.2124T>C | XP_011516708.1:p.Ser708= | |
| XM_011518407.1:c.2124T>C | XP_011516709.1:p.Ser708= | |
| XM_011518408.1:c.2124T>C | XP_011516710.1:p.Ser708= | |
| XR_929739.1:n.2308T>C | ||
| NM_001351527.1:c.2124T>C | NP_001338456.1:p.Ser708= | |
| NM_001351528.1:c.2124T>C | NP_001338457.1:p.Ser708= | |
| NM_015046.6:c.2124T>C | NP_055861.3:p.Ser708= | |
| XM_005272172.3:c.2124T>C | XP_005272229.1:p.Ser708= | |
| XM_005272173.3:c.2124T>C | XP_005272230.1:p.Ser708= | |
| XM_011518404.3:c.2124T>C | XP_011516706.1:p.Ser708= | |
| XM_011518405.3:c.2124T>C | XP_011516707.1:p.Ser708= | |
| XM_011518406.2:c.2124T>C | XP_011516708.1:p.Ser708= | |
| XM_011518408.3:c.2124T>C | XP_011516710.1:p.Ser708= | |
| XR_001746251.1:n.2308T>C | ||
| XR_929739.2:n.2308T>C | ||
| NM_015046.7:c.2124T>C MANE Select | NP_055861.3:p.Ser708= | |
| NM_001351528.2:c.2124T>C | NP_001338457.1:p.Ser708= | |
| NM_001351527.2:c.2124T>C | NP_001338456.1:p.Ser708= |