gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06406427 (SAS)
Genomes Max Group AF
0.06722676 (SAS)
Exomes Max Group AF
0.06357036 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71539065C>A , CM000667.2:g.71539065C>A | GRCh38 |
| NC_000005.9:g.70834892C>A , CM000667.1:g.70834892C>A | GRCh37 |
| NC_000005.8:g.70870648C>A | NCBI36 |
| NG_047017.1:g.88683C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358731.9:c.5916C>A MANE Select | ENSP00000351575.4:p.Ile1972= | |
| ENST00000358731.8:c.5916C>A | ENSP00000351575.4:p.Ile1972= | |
| ENST00000508917.6:n.6108C>A | ||
| ENST00000514903.7:c.686C>A | ||
| ENST00000525844.1:c.78C>A | ENSP00000432404.1:p.Ile26= | |
| NM_018429.2:c.5916C>A | NP_060899.2:p.Ile1972= | |
| XM_006714658.2:c.5916C>A | XP_006714721.1:p.Ile1972= | |
| XM_006714659.2:c.5916C>A | XP_006714722.1:p.Ile1972= | |
| XM_011543511.1:c.5916C>A | XP_011541813.1:p.Ile1972= | |
| XM_011543512.1:c.5916C>A | XP_011541814.1:p.Ile1972= | |
| XM_011543513.1:c.5916C>A | XP_011541815.1:p.Ile1972= | |
| XR_241785.3:n.6410C>A | ||
| XR_948275.1:n.6411C>A | ||
| XR_948276.1:n.6411C>A | ||
| XR_948277.1:n.6411C>A | ||
| XR_948278.1:n.6411C>A | ||
| XR_948279.1:n.6411C>A | ||
| XR_948280.1:n.6411C>A | ||
| XM_011543511.3:c.5916C>A | XP_011541813.1:p.Ile1972= | |
| XM_011543512.2:c.5916C>A | XP_011541814.1:p.Ile1972= | |
| XM_017009630.1:c.5916C>A | XP_016865119.1:p.Ile1972= | |
| XM_017009631.1:c.5916C>A | XP_016865120.1:p.Ile1972= | |
| XM_017009632.1:c.5916C>A | XP_016865121.1:p.Ile1972= | |
| XM_017009633.1:c.5916C>A | XP_016865122.1:p.Ile1972= | |
| XM_017009634.1:c.5916C>A | XP_016865123.1:p.Ile1972= | |
| NM_018429.3:c.5916C>A MANE Select | NP_060899.2:p.Ile1972= |