dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45115068 (EAS)
Genomes Max Group AF
0.45115068 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18024440G>A , CM000673.2:g.18024440G>A | GRCh38 |
| NC_000011.9:g.18045987G>A , CM000673.1:g.18045987G>A | GRCh37 |
| NC_000011.8:g.18002563G>A | NCBI36 |
| NG_011947.1:g.21349C>T | |
| NG_011947.2:g.21349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682019.1:c.931-457C>T MANE Select | ENSP00000508368.1:n.931-457C>T | |
| ENST00000250018.6:c.931-457C>T | ENSP00000250018.2:n.931-457C>T | |
| ENST00000417164.5:c.734-457C>T | ENSP00000403831.1:n.734-457C>T | |
| NM_004179.2:c.931-457C>T | NP_004170.1:n.931-457C>T | |
| NM_004179.3:c.931-457C>T MANE Select | NP_004170.1:n.931-457C>T |