gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006476 (NFE)
Genomes Max Group AF
0.00004742 (AFR)
Exomes Max Group AF
0.00006609 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116616860A>G , CM000668.2:g.116616860A>G | GRCh38 |
| NC_000006.11:g.116938023A>G , CM000668.1:g.116938023A>G | GRCh37 |
| NC_000006.10:g.117044716A>G | NCBI36 |
| NG_012934.1:g.5382A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.237A>G MANE Select | ENSP00000229554.5:p.Thr79= | |
| ENST00000229554.9:c.237A>G | ENSP00000229554.5:p.Thr79= | |
| ENST00000368580.4:c.237A>G | ENSP00000357569.4:p.Thr79= | |
| ENST00000368581.8:c.237A>G | ENSP00000357570.4:p.Thr79= | |
| NM_001010892.2:c.237A>G | NP_001010892.1:p.Thr79= | |
| NM_001161664.1:c.237A>G | NP_001155136.1:p.Thr79= | |
| XM_006715469.2:c.237A>G | XP_006715532.1:p.Thr79= | |
| XM_011535791.1:c.237A>G | XP_011534093.1:p.Thr79= | |
| XM_011535792.1:c.237A>G | XP_011534094.1:p.Thr79= | |
| XR_942416.1:n.2888A>G | ||
| XM_017010826.1:c.237A>G | XP_016866315.1:p.Thr79= | |
| NM_001010892.3:c.237A>G MANE Select | NP_001010892.1:p.Thr79= | |
| NM_001161664.2:c.237A>G | NP_001155136.1:p.Thr79= |