gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45189786 (AFR)
Genomes Max Group AF
0.45189786 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36673349G>A , CM000676.2:g.36673349G>A | GRCh38 |
| NC_000014.8:g.37142554G>A , CM000676.1:g.37142554G>A | GRCh37 |
| NC_000014.7:g.36212305G>A | NCBI36 |
| NG_013357.1:g.20782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.772-2849G>A MANE Select | ENSP00000355245.6:n.772-2849G>A | |
| ENST00000361487.6:c.772-2849G>A | ENSP00000355245.6:n.772-2849G>A | |
| ENST00000402703.6:c.772-2849G>A | ENSP00000384817.2:n.772-2849G>A | |
| ENST00000554201.1:c.201-2849G>A | ENSP00000450434.1:n.201-2849G>A | |
| ENST00000557107.1:n.837+1240G>A | ||
| NM_006194.3:c.772-2849G>A | NP_006185.1:n.772-2849G>A | |
| NM_001372076.1:c.772-2849G>A MANE Select | NP_001359005.1:n.772-2849G>A | |
| NM_006194.4:c.772-2849G>A | NP_006185.1:n.772-2849G>A |