gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00597745 (AFR)
Genomes Max Group AF
0.0052249 (AFR)
Exomes Max Group AF
0.00648097 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74005844G>A , CM000673.2:g.74005844G>A | GRCh38 |
| NC_000011.9:g.73716889G>A , CM000673.1:g.73716889G>A | GRCh37 |
| NC_000011.8:g.73394537G>A | NCBI36 |
| NG_011515.1:g.8394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.427C>T MANE Select | ENSP00000323740.4:p.Arg143Ter | |
| ENST00000314032.8:c.427C>T | ENSP00000323740.4:p.Arg143Ter | |
| ENST00000426995.2:c.427C>T | ENSP00000392143.2:p.Arg143Ter | |
| NM_003356.3:c.427C>T | NP_003347.1:p.Arg143Ter | |
| NM_022803.2:c.427C>T | NP_073714.1:p.Arg143Ter | |
| XR_950298.1:n.1768+9810G>A | ||
| NM_003356.4:c.427C>T MANE Select | NP_003347.1:p.Arg143Ter | |
| NM_022803.3:c.427C>T | NP_073714.1:p.Arg143Ter |