gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000826 (NFE)
Exomes Max Group AF
0.00000835 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89649760T>C , CM000677.2:g.89649760T>C | GRCh38 |
| NC_000015.9:g.90192991T>C , CM000677.1:g.90192991T>C | GRCh37 |
| NC_000015.8:g.87993995T>C | NCBI36 |
| NG_030338.1:g.10692A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.633A>G | ENSP00000512678.1:p.Glu211= | |
| ENST00000394412.8:c.510A>G MANE Select | ENSP00000377934.3:p.Glu170= | |
| ENST00000394412.7:c.510A>G | ENSP00000377934.3:p.Glu170= | |
| ENST00000445906.1:c.*169A>G | ENSP00000395906.1:n.*169A>G | |
| NM_198525.2:c.510A>G | NP_940927.2:p.Glu170= | |
| XM_005254902.2:c.510A>G | XP_005254959.1:p.Glu170= | |
| XM_011521531.1:c.633A>G | XP_011519833.1:p.Glu211= | |
| XM_011521532.1:c.633A>G | XP_011519834.1:p.Glu211= | |
| XM_011521533.1:c.633A>G | XP_011519835.1:p.Glu211= | |
| XM_011521534.1:c.633A>G | XP_011519836.1:p.Glu211= | |
| XM_011521535.1:c.633A>G | XP_011519837.1:p.Glu211= | |
| XM_011521536.1:c.633A>G | XP_011519838.1:p.Glu211= | |
| XM_011521537.1:c.633A>G | XP_011519839.1:p.Glu211= | |
| XM_011521531.2:c.633A>G | XP_011519833.1:p.Glu211= | |
| NM_198525.3:c.510A>G MANE Select | NP_940927.2:p.Glu170= |