gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00058378 (SAS)
Genomes Max Group AF
0.00053954 (AFR)
Exomes Max Group AF
0.00058569 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2951129G>A , CM000680.2:g.2951129G>A | GRCh38 |
| NC_000018.9:g.2951127G>A , CM000680.1:g.2951127G>A | GRCh37 |
| NC_000018.8:g.2941127G>A | NCBI36 |
| NG_007507.1:g.65819C>T , LRG_174:g.65819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.516C>T | ENSP00000261596.4:p.Ala172= | |
| ENST00000697039.1:c.516C>T | ENSP00000513061.1:p.Ala172= | |
| ENST00000697040.1:c.516C>T | ENSP00000513062.1:p.Ala172= | |
| ENST00000697042.1:c.516C>T | ENSP00000513064.1:p.Ala172= | |
| ENST00000677752.1:c.516C>T MANE Select | ENSP00000504857.1:p.Ala172= | |
| ENST00000261596.8:c.516C>T | ENSP00000261596.4:p.Ala172= | |
| ENST00000584294.1:c.516C>T | ENSP00000463026.1:p.Ala172= | |
| NM_014646.2:c.516C>T , LRG_174t1:c.516C>T | NP_055461.1:p.Ala172= | |
| XM_005258177.3:c.627C>T | XP_005258234.1:p.Ala209= | |
| XM_005258178.2:c.516C>T | XP_005258235.1:p.Ala172= | |
| XM_005258179.3:c.516C>T | XP_005258236.1:p.Ala172= | |
| XR_935074.1:n.645C>T | ||
| XM_005258177.4:c.627C>T | XP_005258234.1:p.Ala209= | |
| XM_005258178.3:c.516C>T | XP_005258235.1:p.Ala172= | |
| XM_005258179.5:c.516C>T | XP_005258236.1:p.Ala172= | |
| XM_017026098.1:c.516C>T | XP_016881587.1:p.Ala172= | |
| XM_017026099.1:c.516C>T | XP_016881588.1:p.Ala172= | |
| XR_935074.2:n.690C>T | ||
| NM_001375808.1:c.516C>T | NP_001362737.1:p.Ala172= | |
| NM_001375809.1:c.516C>T | NP_001362738.1:p.Ala172= | |
| NM_001375808.2:c.516C>T MANE Select | NP_001362737.1:p.Ala172= |