gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00634752 (NFE)
Genomes Max Group AF
0.00540371 (NFE)
Exomes Max Group AF
0.00637992 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732741T>G , CM000667.2:g.76732741T>G | GRCh38 |
| NC_000005.9:g.76028566T>G , CM000667.1:g.76028566T>G | GRCh37 |
| NC_000005.8:g.76064322T>G | NCBI36 |
| NG_032906.1:g.21699T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319211.5:c.516T>G MANE Select | ENSP00000321326.4:p.Ser172= | |
| ENST00000319211.4:c.516T>G | ENSP00000321326.4:p.Ser172= | |
| NM_001311313.1:c.153T>G | NP_001298242.1:p.Ser51= | |
| NM_001992.3:c.516T>G | NP_001983.2:p.Ser172= | |
| NM_001992.4:c.516T>G | NP_001983.2:p.Ser172= | |
| NM_001992.5:c.516T>G MANE Select | NP_001983.2:p.Ser172= | |
| NM_001311313.2:c.153T>G | NP_001298242.1:p.Ser51= |