gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26242051T>G , CM000663.2:g.26242051T>G | GRCh38 |
| NC_000001.10:g.26568542T>G , CM000663.1:g.26568542T>G | GRCh37 |
| NC_000001.9:g.26441129T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451429.8:c.56-2115T>G MANE Select | ENSP00000417002.3:n.56-2115T>G | |
| ENST00000640292.2:c.55+2213T>G | ENSP00000492362.2:n.55+2213T>G | |
| ENST00000252992.8:c.56-2115T>G | ENSP00000252992.4:n.56-2115T>G | |
| ENST00000451429.6:c.55+2213T>G | ENSP00000417002.2:n.55+2213T>G | |
| ENST00000476272.6:c.56-2115T>G | ENSP00000432354.1:n.56-2115T>G | |
| NM_001281517.1:c.55+2213T>G | NP_001268446.1:n.55+2213T>G | |
| NM_022778.3:c.56-2115T>G | NP_073615.2:n.56-2115T>G | |
| XM_005245969.2:c.56-2115T>G | XP_005246026.1:n.56-2115T>G | |
| NM_001281517.2:c.55+2213T>G | NP_001268446.1:n.55+2213T>G | |
| NM_001319944.1:c.56-2115T>G | NP_001306873.1:n.56-2115T>G | |
| NM_022778.4:c.56-2115T>G | NP_073615.2:n.56-2115T>G | |
| XM_017002105.2:c.56-2115T>G | XP_016857594.1:n.56-2115T>G | |
| XM_024449198.1:c.56-2115T>G | XP_024304966.1:n.56-2115T>G | |
| XM_024449200.1:c.56-2115T>G | XP_024304968.1:n.56-2115T>G | |
| NM_001281517.3:c.55+2213T>G | NP_001268446.1:n.55+2213T>G | |
| NM_001319944.2:c.56-2115T>G MANE Select | NP_001306873.1:n.56-2115T>G | |
| NM_022778.5:c.56-2115T>G | NP_073615.2:n.56-2115T>G |