gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63080907 (NFE)
Genomes Max Group AF
0.63080907 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10752203C>T , CM000667.2:g.10752203C>T | GRCh38 |
| NC_000005.9:g.10752315C>T , CM000667.1:g.10752315C>T | GRCh37 |
| NC_000005.8:g.10805315C>T | NCBI36 |
| NG_011546.1:g.14073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230895.11:c.56-3932G>A MANE Select | ENSP00000230895.7:n.56-3932G>A | |
| ENST00000230895.10:c.56-3932G>A | ENSP00000230895.6:n.56-3932G>A | |
| ENST00000432074.2:c.56-3932G>A | ENSP00000394163.2:n.56-3932G>A | |
| ENST00000508253.5:n.213-3932G>A | ||
| ENST00000508646.1:n.89-3932G>A | ||
| ENST00000510546.1:n.187-3932G>A | ||
| ENST00000514882.5:n.124-3932G>A | ||
| NM_001291963.1:c.56-3932G>A | NP_001278892.1:n.56-3932G>A | |
| NM_004394.2:c.56-3932G>A | NP_004385.1:n.56-3932G>A | |
| NM_001291963.2:c.56-3932G>A | NP_001278892.1:n.56-3932G>A | |
| NM_004394.3:c.56-3932G>A MANE Select | NP_004385.1:n.56-3932G>A |