gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32877098 (AMR)
Genomes Max Group AF
0.32877098 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40256869A>G , CM000684.2:g.40256869A>G | GRCh38 |
| NC_000022.10:g.40652873A>G , CM000684.1:g.40652873A>G | GRCh37 |
| NC_000022.9:g.38982819A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454349.7:c.116-4963A>G MANE Select | ENSP00000401946.2:n.116-4963A>G | |
| ENST00000301923.13:c.224-4963A>G | ENSP00000306759.9:n.224-4963A>G | |
| ENST00000335727.13:c.116-4963A>G | ENSP00000338371.8:n.116-4963A>G | |
| ENST00000402203.5:c.224-4963A>G | ENSP00000384795.1:n.224-4963A>G | |
| ENST00000454349.6:c.116-4963A>G | ENSP00000401946.2:n.116-4963A>G | |
| NM_001024843.1:c.224-4963A>G | NP_001020014.1:n.224-4963A>G | |
| NM_001162501.1:c.116-4963A>G | NP_001155973.1:n.116-4963A>G | |
| NM_015088.2:c.116-4963A>G | NP_055903.2:n.116-4963A>G | |
| NM_001162501.2:c.116-4963A>G MANE Select | NP_001155973.1:n.116-4963A>G | |
| NM_015088.3:c.116-4963A>G | NP_055903.2:n.116-4963A>G | |
| NM_001024843.2:c.224-4963A>G | NP_001020014.1:n.224-4963A>G |