gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00663312 (AFR)
Genomes Max Group AF
0.00657516 (AFR)
Exomes Max Group AF
0.00625463 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68409946G>A , CM000673.2:g.68409946G>A | GRCh38 |
| NC_000011.9:g.68177414G>A , CM000673.1:g.68177414G>A | GRCh37 |
| NC_000011.8:g.67933990G>A | NCBI36 |
| NG_015835.1:g.102307G>A | |
| NG_015835.2:g.102307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.2124G>A MANE Select | ENSP00000294304.6:p.Ser708= | |
| ENST00000294304.11:c.2124G>A | ENSP00000294304.6:p.Ser708= | |
| ENST00000529993.5:c.*730G>A | ENSP00000436652.1:n.*730G>A | |
| NM_001291902.1:c.381G>A | NP_001278831.1:p.Ser127= | |
| NM_002335.3:c.2124G>A | NP_002326.2:p.Ser708= | |
| XM_005273994.2:c.2124G>A | XP_005274051.1:p.Ser708= | |
| XM_011545029.1:c.2151G>A | XP_011543331.1:p.Ser717= | |
| XM_011545030.1:c.2151G>A | XP_011543332.1:p.Ser717= | |
| XM_011545031.1:c.2151G>A | XP_011543333.1:p.Ser717= | |
| XR_949925.1:n.2166G>A | ||
| XR_949926.1:n.2166G>A | ||
| XM_017017735.1:c.381G>A | XP_016873224.1:p.Ser127= | |
| XR_001747874.1:n.2166G>A | ||
| XR_949925.2:n.2166G>A | ||
| XR_949926.2:n.2166G>A | ||
| NM_002335.4:c.2124G>A MANE Select | NP_002326.2:p.Ser708= | |
| NM_001291902.2:c.381G>A | NP_001278831.1:p.Ser127= |