dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33836518 (EAS)
Genomes Max Group AF
0.33836518 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128842886G>A , CM000673.2:g.128842886G>A | GRCh38 |
| NC_000011.9:g.128712781G>A , CM000673.1:g.128712781G>A | GRCh37 |
| NC_000011.8:g.128217991G>A | NCBI36 |
| NG_009379.1:g.29488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.-21-2622C>T MANE Select | ENSP00000376434.1:n.-21-2622C>T | |
| ENST00000324003.3:c.-21-2622C>T | ENSP00000316136.3:n.-21-2622C>T | |
| ENST00000324036.7:c.-21-2622C>T | ENSP00000316233.3:n.-21-2622C>T | |
| ENST00000392665.6:c.-21-2622C>T | ENSP00000376433.2:n.-21-2622C>T | |
| ENST00000392666.5:c.-21-2622C>T | ENSP00000376434.1:n.-21-2622C>T | |
| ENST00000440599.6:c.-21-2622C>T | ENSP00000406320.2:n.-21-2622C>T | |
| ENST00000531562.1:n.325-2622C>T | ||
| NM_153764.2:c.-21-2622C>T | NP_722448.1:n.-21-2622C>T | |
| NM_153765.2:c.31-2622C>T | NP_722449.3:n.31-2622C>T | |
| NM_153766.2:c.-21-2622C>T | NP_722450.1:n.-21-2622C>T | |
| NM_153767.3:c.-21-2622C>T | NP_722451.1:n.-21-2622C>T | |
| NM_153764.3:c.-21-2622C>T | NP_722448.1:n.-21-2622C>T | |
| NM_153765.3:c.31-2622C>T | NP_722449.3:n.31-2622C>T | |
| NM_153766.3:c.-21-2622C>T MANE Select | NP_722450.1:n.-21-2622C>T | |
| NM_153767.4:c.-21-2622C>T | NP_722451.1:n.-21-2622C>T |