gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23861567 (AFR)
Genomes Max Group AF
0.2349131 (AFR)
Exomes Max Group AF
0.24049041 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.47639749A>G , CM000682.2:g.47639749A>G | GRCh38 |
| NC_000020.10:g.46268493A>G , CM000682.1:g.46268493A>G | GRCh37 |
| NC_000020.9:g.45701900A>G | NCBI36 |
| NG_016810.1:g.142893A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371998.8:c.2880A>G MANE Select | ENSP00000361066.3:p.Thr960= | |
| ENST00000371997.3:c.2865A>G | ENSP00000361065.3:p.Thr955= | |
| ENST00000371998.7:c.2880A>G | ENSP00000361066.3:p.Thr960= | |
| ENST00000372004.7:c.2880A>G | ENSP00000361073.1:p.Thr960= | |
| NM_001174087.1:c.2880A>G | NP_001167558.1:p.Thr960= | |
| NM_001174088.1:c.2865A>G | NP_001167559.1:p.Thr955= | |
| NM_006534.3:c.2880A>G | NP_006525.2:p.Thr960= | |
| NM_181659.2:c.2880A>G | NP_858045.1:p.Thr960= | |
| NM_181659.3:c.2880A>G MANE Select | NP_858045.1:p.Thr960= | |
| NM_001174087.2:c.2880A>G | NP_001167558.1:p.Thr960= | |
| NM_001174088.2:c.2865A>G | NP_001167559.1:p.Thr955= | |
| NM_006534.4:c.2880A>G | NP_006525.2:p.Thr960= |