gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45048448 (NFE)
Genomes Max Group AF
0.45048448 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55802162G>A , CM000681.2:g.55802162G>A | GRCh38 |
| NC_000019.9:g.56313528G>A , CM000681.1:g.56313528G>A | GRCh37 |
| NC_000019.8:g.61005340G>A | NCBI36 |
| NG_054722.1:g.39601C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589093.6:c.2004-423C>T MANE Select | ENSP00000466285.1:n.2004-423C>T | |
| ENST00000589093.5:c.2004-423C>T | ENSP00000466285.1:n.2004-423C>T | |
| ENST00000589824.6:c.1842-423C>T | ENSP00000468082.1:n.1842-423C>T | |
| ENST00000590409.5:c.1707-423C>T | ENSP00000466582.1:n.1707-423C>T | |
| ENST00000592953.5:c.1707-423C>T | ENSP00000468196.1:n.1707-423C>T | |
| ENST00000593244.5:c.2004-423C>T | ENSP00000467988.1:n.2004-423C>T | |
| NM_001297743.1:c.1707-423C>T | NP_001284672.1:n.1707-423C>T | |
| NM_145007.3:c.2004-423C>T | NP_659444.2:n.2004-423C>T | |
| NM_001297743.3:c.1707-423C>T | NP_001284672.1:n.1707-423C>T | |
| NM_001385451.2:c.1842-423C>T | NP_001372380.1:n.1842-423C>T | |
| NM_001385453.2:c.2004-423C>T | NP_001372382.1:n.2004-423C>T | |
| NM_145007.5:c.2004-423C>T | NP_659444.2:n.2004-423C>T | |
| NR_169620.2:n.2195-423C>T | ||
| NR_169621.2:n.2528-423C>T | ||
| NR_169622.2:n.796-423C>T | ||
| NM_001394894.2:c.2004-423C>T MANE Select | NP_001381823.1:n.2004-423C>T |