gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044553 (AMR)
Genomes Max Group AF
0.00086559 (AMR)
Exomes Max Group AF
0.00019796 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89631585G>A , CM000677.2:g.89631585G>A | GRCh38 |
| NC_000015.9:g.90174816G>A , CM000677.1:g.90174816G>A | GRCh37 |
| NC_000015.8:g.87975820G>A | NCBI36 |
| NG_030338.1:g.28867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3144C>T | ENSP00000512678.1:p.Ile1048= | |
| ENST00000394412.8:c.3021C>T MANE Select | ENSP00000377934.3:p.Ile1007= | |
| ENST00000677187.1:n.695C>T | ||
| ENST00000394412.7:c.3021C>T | ENSP00000377934.3:p.Ile1007= | |
| NM_198525.2:c.3021C>T | NP_940927.2:p.Ile1007= | |
| XM_005254902.2:c.3021C>T | XP_005254959.1:p.Ile1007= | |
| XM_011521531.1:c.3144C>T | XP_011519833.1:p.Ile1048= | |
| XM_011521532.1:c.3141C>T | XP_011519834.1:p.Ile1047= | |
| XM_011521533.1:c.3141C>T | XP_011519835.1:p.Ile1047= | |
| XM_011521534.1:c.3144C>T | XP_011519836.1:p.Ile1048= | |
| XM_011521535.1:c.3144C>T | XP_011519837.1:p.Ile1048= | |
| XM_011521536.1:c.3144C>T | XP_011519838.1:p.Ile1048= | |
| XM_011521531.2:c.3144C>T | XP_011519833.1:p.Ile1048= | |
| NM_198525.3:c.3021C>T MANE Select | NP_940927.2:p.Ile1007= |