gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30595496 (NFE)
Genomes Max Group AF
0.30595496 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86555641T>C , CM000673.2:g.86555641T>C | GRCh38 |
| NC_000011.9:g.86266683T>C , CM000673.1:g.86266683T>C | GRCh37 |
| NC_000011.8:g.85944331T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524826.8:c.467+912A>G | ENSP00000431182.2:n.467+912A>G | |
| ENST00000543262.6:c.467+912A>G MANE Select | ENSP00000440246.1:n.467+912A>G | |
| ENST00000524826.7:c.467+912A>G | ENSP00000431182.2:n.467+912A>G | |
| ENST00000323418.10:c.281+912A>G | ENSP00000315255.6:n.281+912A>G | |
| ENST00000393324.7:c.467+912A>G | ENSP00000376998.2:n.467+912A>G | |
| ENST00000524826.5:c.467+912A>G | ENSP00000431182.1:n.467+912A>G | |
| ENST00000526504.5:c.467+912A>G | ENSP00000433636.1:n.467+912A>G | |
| ENST00000530520.5:n.488+912A>G | ||
| ENST00000543262.5:c.467+912A>G | ENSP00000440246.1:n.467+912A>G | |
| NM_001014811.1:c.467+912A>G | NP_001014811.1:n.467+912A>G | |
| NM_001161586.1:c.467+912A>G | NP_001155058.1:n.467+912A>G | |
| NM_006680.2:c.467+912A>G | NP_006671.2:n.467+912A>G | |
| XM_005273717.1:c.467+912A>G | XP_005273774.1:n.467+912A>G | |
| XM_011544735.1:c.467+912A>G | XP_011543037.1:n.467+912A>G | |
| XM_011544736.1:c.467+912A>G | XP_011543038.1:n.467+912A>G | |
| XR_949760.1:n.629+912A>G | ||
| XR_949761.1:n.629+912A>G | ||
| XR_949762.1:n.789+912A>G | ||
| XR_949763.1:n.629+912A>G | ||
| XR_949764.1:n.629+912A>G | ||
| XR_949765.1:n.629+912A>G | ||
| XR_949766.1:n.629+912A>G | ||
| NM_001351934.1:c.467+912A>G | NP_001338863.1:n.467+912A>G | |
| NR_147828.1:n.794+912A>G | ||
| NR_147829.1:n.820+912A>G | ||
| NR_147830.1:n.794+912A>G | ||
| NR_147831.1:n.721+912A>G | ||
| XM_017017136.1:c.827+912A>G | XP_016872625.1:n.827+912A>G | |
| XM_017017138.1:c.-238+912A>G | XP_016872627.1:n.-238+912A>G | |
| XR_001747736.2:n.2900+912A>G | ||
| XR_001747737.2:n.2900+912A>G | ||
| XR_001747738.2:n.2900+912A>G | ||
| XR_001747739.2:n.2903+912A>G | ||
| XR_001747740.1:n.2903+912A>G | ||
| XR_001747741.2:n.2903+912A>G | ||
| XR_001747742.2:n.2520+912A>G | ||
| XR_001747743.2:n.2902+912A>G | ||
| XR_001747744.2:n.2902+912A>G | ||
| XR_001747745.1:n.670+912A>G | ||
| XR_001747746.1:n.705+912A>G | ||
| XR_001747747.2:n.2927+912A>G | ||
| XR_001747749.2:n.2930+912A>G | ||
| XR_949760.2:n.1565+912A>G | ||
| XR_949761.3:n.2900+912A>G | ||
| XR_949766.3:n.2899+912A>G | ||
| NM_001014811.2:c.467+912A>G | NP_001014811.1:n.467+912A>G | |
| NM_001161586.2:c.467+912A>G | NP_001155058.1:n.467+912A>G | |
| NM_001351934.2:c.467+912A>G | NP_001338863.1:n.467+912A>G | |
| NM_006680.3:c.467+912A>G | NP_006671.2:n.467+912A>G | |
| NR_147828.2:n.585+912A>G | ||
| NR_147829.2:n.611+912A>G | ||
| NR_147830.2:n.585+912A>G | ||
| NR_147831.2:n.698+912A>G | ||
| NM_001161586.3:c.467+912A>G MANE Select | NP_001155058.1:n.467+912A>G | |
| NM_001395868.1:c.467+912A>G | NP_001382797.1:n.467+912A>G | |
| NR_172888.1:n.774+912A>G | ||
| NR_172889.1:n.698+912A>G |