gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014457 (MID)
Genomes Max Group AF
0.00000805 (AFR)
Exomes Max Group AF
0.00019996 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16278222T>C , CM000669.2:g.16278222T>C | GRCh38 |
| NC_000007.13:g.16317847T>C , CM000669.1:g.16317847T>C | GRCh37 |
| NC_000007.12:g.16284372T>C | NCBI36 |
| NG_032690.1:g.148101A>G | |
| NG_032690.2:g.148101A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.840A>G MANE Select | ENSP00000385478.2:p.Arg280= | |
| ENST00000674759.1:c.537A>G | ENSP00000502749.1:p.Arg179= | |
| ENST00000675257.1:c.432A>G | ENSP00000501664.1:p.Arg144= | |
| ENST00000676325.1:c.537A>G | ENSP00000502074.1:p.Arg179= | |
| ENST00000399310.3:c.690A>G | ENSP00000382249.3:p.Arg230= | |
| ENST00000407010.6:c.840A>G | ENSP00000385478.2:p.Arg280= | |
| ENST00000479493.1:n.51A>G | ||
| NM_001101417.3:c.690A>G | NP_001094887.1:p.Arg230= | |
| NM_001101426.3:c.840A>G | NP_001094896.1:p.Arg280= | |
| XM_006715770.2:c.591A>G | XP_006715833.1:p.Arg197= | |
| XM_011515497.1:c.840A>G | XP_011513799.1:p.Arg280= | |
| XM_011515498.1:c.840A>G | XP_011513800.1:p.Arg280= | |
| XM_011515499.1:c.840A>G | XP_011513801.1:p.Arg280= | |
| XM_011515500.1:c.735A>G | XP_011513802.1:p.Arg245= | |
| XM_011515501.1:c.840A>G | XP_011513803.1:p.Arg280= | |
| XM_011515502.1:c.537A>G | XP_011513804.1:p.Arg179= | |
| XM_011515503.1:c.537A>G | XP_011513805.1:p.Arg179= | |
| XM_011515504.1:c.537A>G | XP_011513806.1:p.Arg179= | |
| XM_011515505.1:c.537A>G | XP_011513807.1:p.Arg179= | |
| XM_011515506.1:c.537A>G | XP_011513808.1:p.Arg179= | |
| XM_011515507.1:c.537A>G | XP_011513809.1:p.Arg179= | |
| XM_011515508.1:c.537A>G | XP_011513810.1:p.Arg179= | |
| XM_011515509.1:c.537A>G | XP_011513811.1:p.Arg179= | |
| XM_011515511.1:c.689A>G | XP_011513813.1:p.Glu230Gly | |
| XM_006715770.3:c.591A>G | XP_006715833.1:p.Arg197= | |
| XM_011515499.2:c.840A>G | XP_011513801.1:p.Arg280= | |
| XM_011515500.2:c.735A>G | XP_011513802.1:p.Arg245= | |
| XM_011515501.2:c.840A>G | XP_011513803.1:p.Arg280= | |
| XM_011515508.2:c.537A>G | XP_011513810.1:p.Arg179= | |
| XM_011515509.2:c.537A>G | XP_011513811.1:p.Arg179= | |
| XM_017012575.1:c.840A>G | XP_016868064.1:p.Arg280= | |
| XM_017012576.1:c.840A>G | XP_016868065.1:p.Arg280= | |
| XM_017012577.1:c.204A>G | XP_016868066.1:p.Arg68= | |
| XM_017012578.1:c.204A>G | XP_016868067.1:p.Arg68= | |
| XM_024446909.1:c.537A>G | XP_024302677.1:p.Arg179= | |
| XM_024446910.1:c.537A>G | XP_024302678.1:p.Arg179= | |
| XM_024446911.1:c.432A>G | XP_024302679.1:p.Arg144= | |
| XM_024446912.1:c.591A>G | XP_024302680.1:p.Arg197= | |
| XR_001744864.1:n.945A>G | ||
| XR_001744865.1:n.953A>G | ||
| XR_001744866.1:n.1081A>G | ||
| XR_001744867.1:n.1039A>G | ||
| XR_001744868.1:n.848A>G | ||
| NM_001101426.4:c.840A>G MANE Select | NP_001094896.1:p.Arg280= | |
| NM_001101417.4:c.690A>G | NP_001094887.1:p.Arg230= | |
| NM_001368197.1:c.735A>G | NP_001355126.1:p.Arg245= | |
| NR_160656.1:n.905A>G |