gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14874854 (AFR)
Genomes Max Group AF
0.14636994 (AFR)
Exomes Max Group AF
0.14955512 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.53229594G>A , CM000670.2:g.53229594G>A | GRCh38 |
| NC_000008.10:g.54142154G>A , CM000670.1:g.54142154G>A | GRCh37 |
| NC_000008.9:g.54304707G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265572.8:c.846C>T MANE Select | ENSP00000265572.3:p.Val282= | |
| ENST00000673285.2:c.846C>T | ENSP00000500765.2:p.Val282= | |
| ENST00000265572.7:c.846C>T | ENSP00000265572.3:p.Val282= | |
| ENST00000520287.5:c.846C>T | ENSP00000429706.1:p.Val282= | |
| ENST00000522508.1:c.*669C>T | ENSP00000428231.1:n.*669C>T | |
| ENST00000524278.5:c.579C>T | ENSP00000430923.1:p.Val193= | |
| ENST00000612786.4:c.579C>T | ENSP00000483000.1:p.Val193= | |
| ENST00000613482.1:c.804C>T | ENSP00000478453.1:p.Val268= | |
| NM_000912.3:c.846C>T | NP_000903.2:p.Val282= | |
| NM_001282904.1:c.579C>T | NP_001269833.1:p.Val193= | |
| NM_000912.4:c.846C>T | NP_000903.2:p.Val282= | |
| NM_001318497.1:c.846C>T | NP_001305426.1:p.Val282= | |
| NM_000912.5:c.846C>T MANE Select | NP_000903.2:p.Val282= | |
| NM_001318497.2:c.846C>T | NP_001305426.1:p.Val282= | |
| NM_001282904.2:c.579C>T | NP_001269833.1:p.Val193= |