gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00110405 (NFE)
Genomes Max Group AF
0.00163517 (AMR)
Exomes Max Group AF
0.00111677 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53152943G>A , CM000676.2:g.53152943G>A | GRCh38 |
| NC_000014.8:g.53619661G>A , CM000676.1:g.53619661G>A | GRCh37 |
| NC_000014.7:g.52689411G>A | NCBI36 |
| NG_042832.1:g.5386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673822.2:c.156C>T MANE Select | ENSP00000500986.2:p.Gly52= | |
| ENST00000323669.9:c.156C>T | ENSP00000327104.5:p.Gly52= | |
| ENST00000357758.3:c.156C>T | ENSP00000350401.3:p.Gly52= | |
| ENST00000395606.5:c.156C>T | ENSP00000378970.1:p.Gly52= | |
| ENST00000612692.4:c.156C>T | ENSP00000483405.1:p.Gly52= | |
| NM_001160147.1:c.156C>T | NP_001153619.1:p.Gly52= | |
| NM_001160148.1:c.156C>T | NP_001153620.1:p.Gly52= | |
| NM_030637.2:c.156C>T | NP_085140.2:p.Gly52= | |
| XM_005268102.1:c.156C>T | XP_005268159.1:p.Gly52= | |
| XM_005268103.1:c.156C>T | XP_005268160.1:p.Gly52= | |
| XM_005268105.1:c.156C>T | XP_005268162.1:p.Gly52= | |
| XM_011537188.1:c.156C>T | XP_011535490.1:p.Gly52= | |
| XM_011537189.1:c.156C>T | XP_011535491.1:p.Gly52= | |
| XM_005268102.3:c.156C>T | XP_005268159.1:p.Gly52= | |
| XM_005268103.3:c.156C>T | XP_005268160.1:p.Gly52= | |
| XM_005268105.3:c.156C>T | XP_005268162.1:p.Gly52= | |
| XM_011537188.3:c.156C>T | XP_011535490.1:p.Gly52= | |
| XM_011537189.3:c.156C>T | XP_011535491.1:p.Gly52= | |
| XM_017021668.2:c.156C>T | XP_016877157.1:p.Gly52= | |
| XM_017021669.2:c.156C>T | XP_016877158.1:p.Gly52= | |
| NM_001160147.2:c.156C>T | NP_001153619.1:p.Gly52= | |
| NM_001160148.2:c.156C>T MANE Select | NP_001153620.1:p.Gly52= | |
| NM_030637.3:c.156C>T | NP_085140.2:p.Gly52= |