gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29011997 (EAS)
Genomes Max Group AF
0.29011997 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67889462A>G , CM000672.2:g.67889462A>G | GRCh38 |
| NC_000010.10:g.69649220A>G , CM000672.1:g.69649220A>G | GRCh37 |
| NC_000010.9:g.69319226A>G | NCBI36 |
| NG_050664.1:g.9801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.789+339A>G MANE Select | ENSP00000212015.6:n.789+339A>G | |
| ENST00000212015.10:c.789+339A>G | ENSP00000212015.6:n.789+339A>G | |
| ENST00000432464.5:c.-97+1929A>G | ENSP00000409208.1:n.-97+1929A>G | |
| ENST00000473922.1:n.333+1929A>G | ||
| ENST00000497639.5:n.578+339A>G | ||
| NM_001142498.1:c.-97+1929A>G | NP_001135970.1:n.-97+1929A>G | |
| NM_012238.4:c.789+339A>G | NP_036370.2:n.789+339A>G | |
| XM_006717737.2:c.789+339A>G | XP_006717800.1:n.789+339A>G | |
| XM_011539561.1:c.213+339A>G | XP_011537863.1:n.213+339A>G | |
| NM_012238.5:c.789+339A>G MANE Select | NP_036370.2:n.789+339A>G | |
| NM_001142498.2:c.-97+1929A>G | NP_001135970.1:n.-97+1929A>G |