gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76628998 (AFR)
Genomes Max Group AF
0.76628998 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69924339A>G , CM000664.2:g.69924339A>G | GRCh38 |
| NC_000002.11:g.70151471A>G , CM000664.1:g.70151471A>G | GRCh37 |
| NC_000002.10:g.70004975A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264444.7:c.203+2574A>G MANE Select | ENSP00000264444.2:n.203+2574A>G | |
| ENST00000264444.6:c.203+2574A>G | ENSP00000264444.2:n.203+2574A>G | |
| ENST00000409442.2:c.77+8119A>G | ENSP00000386523.2:n.77+8119A>G | |
| ENST00000435990.5:c.107+2574A>G | ENSP00000410672.1:n.107+2574A>G | |
| ENST00000540449.5:c.173+8119A>G | ENSP00000443935.1:n.173+8119A>G | |
| NM_001202513.1:c.203+2574A>G | NP_001189442.1:n.203+2574A>G | |
| NM_001202514.1:c.173+8119A>G | NP_001189443.1:n.173+8119A>G | |
| NM_002357.3:c.203+2574A>G | NP_002348.1:n.203+2574A>G | |
| NM_002357.4:c.203+2574A>G MANE Select | NP_002348.1:n.203+2574A>G | |
| NM_001202513.2:c.203+2574A>G | NP_001189442.1:n.203+2574A>G | |
| NM_001202514.2:c.173+8119A>G | NP_001189443.1:n.173+8119A>G |