dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92904595 (AFR)
Genomes Max Group AF
0.92904595 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137115777A>G , CM000664.2:g.137115777A>G | GRCh38 |
| NC_000002.11:g.137873347A>G , CM000664.1:g.137873347A>G | GRCh37 |
| NC_000002.10:g.137589817A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.1369+484A>G MANE Select | ENSP00000387145.1:n.1369+484A>G | |
| ENST00000272643.7:c.1369+484A>G | ENSP00000272643.4:n.1369+484A>G | |
| ENST00000409968.5:c.1369+484A>G | ENSP00000387145.1:n.1369+484A>G | |
| ENST00000413152.3:c.1276+484A>G | ENSP00000413841.3:n.1276+484A>G | |
| NM_001080427.1:c.1276+484A>G | NP_001073896.1:n.1276+484A>G | |
| NM_001316349.1:c.1369+484A>G | NP_001303278.1:n.1369+484A>G | |
| NM_001316349.2:c.1369+484A>G MANE Select | NP_001303278.1:n.1369+484A>G |