gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0021619 (AFR)
Genomes Max Group AF
0.001957 (AFR)
Exomes Max Group AF
0.00215787 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75566841C>T , CM000673.2:g.75566841C>T | GRCh38 |
| NC_000011.9:g.75277886C>T , CM000673.1:g.75277886C>T | GRCh37 |
| NC_000011.8:g.74955534C>T | NCBI36 |
| NG_012052.1:g.9717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358171.8:c.492C>T MANE Select | ENSP00000350894.4:p.Arg164= | |
| ENST00000533449.6:c.492C>T | ENSP00000431827.2:p.Arg164= | |
| ENST00000649490.1:c.492C>T | ENSP00000497544.1:p.Arg164= | |
| ENST00000358171.7:c.492C>T | ENSP00000350894.3:p.Arg164= | |
| ENST00000524558.5:c.492C>T | ENSP00000434412.1:p.Arg164= | |
| ENST00000525492.5:c.351C>T | ENSP00000434482.1:p.Arg117= | |
| ENST00000525611.5:c.492C>T | ENSP00000435452.1:p.Arg164= | |
| ENST00000526397.5:c.492C>T | ENSP00000434964.1:p.Arg164= | |
| ENST00000528760.1:c.492C>T | ENSP00000437108.1:p.Arg164= | |
| ENST00000528990.1:c.492C>T | ENSP00000432007.2:p.Arg164= | |
| ENST00000529643.1:c.492C>T | ENSP00000435936.1:p.Arg164= | |
| ENST00000530284.5:c.492C>T | ENSP00000436305.1:p.Arg164= | |
| ENST00000532356.5:c.492C>T | ENSP00000436040.1:p.Arg164= | |
| ENST00000533603.5:c.492C>T | ENSP00000434657.1:p.Arg164= | |
| NM_001207014.1:c.492C>T | NP_001193943.1:p.Arg164= | |
| NM_001235.3:c.492C>T | NP_001226.2:p.Arg164= | |
| XM_006718729.1:c.492C>T | XP_006718792.1:p.Arg164= | |
| XM_011545326.1:c.492C>T | XP_011543628.1:p.Arg164= | |
| XM_011545327.1:c.492C>T | XP_011543629.1:p.Arg164= | |
| XM_024448756.1:c.492C>T | XP_024304524.1:p.Arg164= | |
| NM_001207014.2:c.492C>T | NP_001193943.1:p.Arg164= | |
| NM_001235.5:c.492C>T MANE Select | NP_001226.2:p.Arg164= | |
| NM_001207014.3:c.492C>T | NP_001193943.1:p.Arg164= |