gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48437113 (NFE)
Genomes Max Group AF
0.48437113 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109759221C>T , CM000675.2:g.109759221C>T | GRCh38 |
| NC_000013.10:g.110411568C>T , CM000675.1:g.110411568C>T | GRCh37 |
| NC_000013.9:g.109209569C>T | NCBI36 |
| NG_008154.1:g.32347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375856.5:c.4013-2913G>A MANE Select | ENSP00000365016.3:n.4013-2913G>A | |
| ENST00000375856.4:c.4013-2913G>A | ENSP00000365016.3:n.4013-2913G>A | |
| NM_003749.2:c.4013-2913G>A | NP_003740.2:n.4013-2913G>A | |
| NM_003749.3:c.4013-2913G>A MANE Select | NP_003740.2:n.4013-2913G>A |