gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13286689 (AFR)
Genomes Max Group AF
0.13286689 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.129664693T>G , CM000667.2:g.129664693T>G | GRCh38 |
| NC_000005.9:g.129000386T>G , CM000667.1:g.129000386T>G | GRCh37 |
| NC_000005.8:g.129028285T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274487.9:c.2426-806T>G MANE Select | ENSP00000274487.5:n.2426-806T>G | |
| ENST00000274487.8:c.2408-806T>G | ENSP00000274487.4:n.2408-806T>G | |
| NM_133638.3:c.2408-806T>G | NP_598377.3:n.2408-806T>G | |
| XM_011543246.1:c.1706-806T>G | XP_011541548.1:n.1706-806T>G | |
| XM_011543247.1:c.1235-806T>G | XP_011541549.1:n.1235-806T>G | |
| XM_011543248.1:c.1235-806T>G | XP_011541550.1:n.1235-806T>G | |
| XM_011543249.1:c.1094-806T>G | XP_011541551.1:n.1094-806T>G | |
| NM_133638.4:c.2426-806T>G | NP_598377.4:n.2426-806T>G | |
| XM_011543246.2:c.1706-806T>G | XP_011541548.1:n.1706-806T>G | |
| XM_011543247.2:c.1235-806T>G | XP_011541549.1:n.1235-806T>G | |
| XM_011543248.2:c.1235-806T>G | XP_011541550.1:n.1235-806T>G | |
| XM_011543249.2:c.1094-806T>G | XP_011541551.1:n.1094-806T>G | |
| XM_017009174.1:c.1412-806T>G | XP_016864663.1:n.1412-806T>G | |
| XM_017009175.1:c.1094-806T>G | XP_016864664.1:n.1094-806T>G | |
| XM_017009176.1:c.1082-806T>G | XP_016864665.1:n.1082-806T>G | |
| NM_133638.5:c.2426-806T>G | NP_598377.4:n.2426-806T>G | |
| NM_133638.6:c.2426-806T>G MANE Select | NP_598377.4:n.2426-806T>G |