gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005137 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00003766 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132099G>A , CM000677.2:g.100132099G>A | GRCh38 |
| NC_000015.9:g.100672304G>A , CM000677.1:g.100672304G>A | GRCh37 |
| NC_000015.8:g.98489827G>A | NCBI36 |
| NG_016287.1:g.214880C>T | |
| NG_016287.2:g.214880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1629C>T MANE Select | ENSP00000268070.4:p.Asp543= | |
| ENST00000568565.2:c.1629C>T | ENSP00000456161.2:p.Asp543= | |
| ENST00000268070.8:c.1629C>T | ENSP00000268070.4:p.Asp543= | |
| ENST00000378898.8:n.1310C>T | ||
| NM_139057.2:c.1629C>T | NP_620688.2:p.Asp543= | |
| XM_005254872.2:c.1629C>T | XP_005254929.1:p.Asp543= | |
| XM_011521312.1:c.1629C>T | XP_011519614.1:p.Asp543= | |
| NM_139057.3:c.1629C>T | NP_620688.2:p.Asp543= | |
| XM_005254872.3:c.1629C>T | XP_005254929.1:p.Asp543= | |
| XM_011521312.2:c.1629C>T | XP_011519614.1:p.Asp543= | |
| XM_017021973.2:c.1761C>T | XP_016877462.1:p.Asp587= | |
| XM_017021974.1:c.1761C>T | XP_016877463.1:p.Asp587= | |
| XM_017021975.1:c.1761C>T | XP_016877464.1:p.Asp587= | |
| XM_017021976.1:c.1032C>T | XP_016877465.1:p.Asp344= | |
| XM_017021977.1:c.1761C>T | XP_016877466.1:p.Asp587= | |
| XM_017021978.1:c.663C>T | XP_016877467.1:p.Asp221= | |
| XM_017021979.1:c.441C>T | XP_016877468.1:p.Asp147= | |
| XM_017021980.1:c.441C>T | XP_016877469.1:p.Asp147= | |
| XM_017021981.1:c.1761C>T | XP_016877470.1:p.Asp587= | |
| XM_017021982.1:c.150C>T | XP_016877471.1:p.Asp50= | |
| XM_017021983.1:c.27-15086C>T | XP_016877472.1:n.27-15086C>T | |
| XM_017021984.1:c.900C>T | XP_016877473.1:p.Asp300= | |
| XR_001751118.1:n.2783C>T | ||
| XR_001751119.1:n.2783C>T | ||
| XR_001751120.1:n.2783C>T | ||
| NM_139057.4:c.1629C>T MANE Select | NP_620688.2:p.Asp543= |