gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010159 (NFE)
Genomes Max Group AF
0.00005843 (NFE)
Exomes Max Group AF
0.00010107 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534214T>G , CM000664.2:g.232534214T>G | GRCh38 |
| NC_000002.11:g.233398924T>G , CM000664.1:g.233398924T>G | GRCh37 |
| NC_000002.10:g.233107168T>G | NCBI36 |
| NG_008028.1:g.13003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1253-10T>G MANE Select | ENSP00000258385.3:n.1253-10T>G | |
| ENST00000258385.7:c.1253-10T>G | ENSP00000258385.3:n.1253-10T>G | |
| ENST00000441621.6:c.*435-10T>G | ENSP00000408819.2:n.*435-10T>G | |
| ENST00000446616.1:c.*894-10T>G | ENSP00000410801.1:n.*894-10T>G | |
| ENST00000543200.5:c.1208-10T>G | ENSP00000438380.1:n.1208-10T>G | |
| NM_000751.2:c.1253-10T>G | NP_000742.1:n.1253-10T>G | |
| NM_001256657.1:c.1208-10T>G | NP_001243586.1:n.1208-10T>G | |
| NM_001311195.1:c.671-10T>G | NP_001298124.1:n.671-10T>G | |
| NM_001311196.1:c.950-10T>G | NP_001298125.1:n.950-10T>G | |
| NR_046333.1:c.-4294966298-10T>G | ||
| NR_046334.1:c.-4294966019-10T>G | ||
| XM_011510524.1:c.872-10T>G | XP_011508826.1:n.872-10T>G | |
| XM_011510524.2:c.872-10T>G | XP_011508826.1:n.872-10T>G | |
| NM_000751.3:c.1253-10T>G MANE Select | NP_000742.1:n.1253-10T>G | |
| NM_001311195.2:c.671-10T>G | NP_001298124.1:n.671-10T>G | |
| NM_001311196.2:c.950-10T>G | NP_001298125.1:n.950-10T>G | |
| NM_001256657.2:c.1208-10T>G | NP_001243586.1:n.1208-10T>G |