gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006806 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00006609 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100096453G>A , CM000677.2:g.100096453G>A | GRCh38 |
| NC_000015.9:g.100636658G>A , CM000677.1:g.100636658G>A | GRCh37 |
| NC_000015.8:g.98454181G>A | NCBI36 |
| NG_016287.1:g.250526C>T | |
| NG_016287.2:g.250526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2040C>T MANE Select | ENSP00000268070.4:p.Ile680= | |
| ENST00000568565.2:c.2040C>T | ENSP00000456161.2:p.Ile680= | |
| ENST00000268070.8:c.2040C>T | ENSP00000268070.4:p.Ile680= | |
| ENST00000378898.8:n.1721C>T | ||
| ENST00000568565.1:c.143C>T | ||
| NM_139057.2:c.2040C>T | NP_620688.2:p.Ile680= | |
| XM_005254872.2:c.2040C>T | XP_005254929.1:p.Ile680= | |
| XM_011521312.1:c.2040C>T | XP_011519614.1:p.Ile680= | |
| NM_139057.3:c.2040C>T | NP_620688.2:p.Ile680= | |
| XM_005254872.3:c.2040C>T | XP_005254929.1:p.Ile680= | |
| XM_011521312.2:c.2040C>T | XP_011519614.1:p.Ile680= | |
| XM_017021973.2:c.2172C>T | XP_016877462.1:p.Ile724= | |
| XM_017021974.1:c.2172C>T | XP_016877463.1:p.Ile724= | |
| XM_017021975.1:c.2172C>T | XP_016877464.1:p.Ile724= | |
| XM_017021976.1:c.1443C>T | XP_016877465.1:p.Ile481= | |
| XM_017021977.1:c.2172C>T | XP_016877466.1:p.Ile724= | |
| XM_017021978.1:c.1074C>T | XP_016877467.1:p.Ile358= | |
| XM_017021979.1:c.852C>T | XP_016877468.1:p.Ile284= | |
| XM_017021980.1:c.852C>T | XP_016877469.1:p.Ile284= | |
| XM_017021982.1:c.561C>T | XP_016877471.1:p.Ile187= | |
| XM_017021983.1:c.345C>T | XP_016877472.1:p.Ile115= | |
| XM_017021984.1:c.1311C>T | XP_016877473.1:p.Ile437= | |
| XR_001751118.1:n.3194C>T | ||
| XR_001751119.1:n.3194C>T | ||
| XR_001751120.1:n.3194C>T | ||
| NM_139057.4:c.2040C>T MANE Select | NP_620688.2:p.Ile680= |