gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002726 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000263 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237761038A>C , CM000663.2:g.237761038A>C | GRCh38 |
| NC_000001.10:g.237924338A>C , CM000663.1:g.237924338A>C | GRCh37 |
| NC_000001.9:g.235990961A>C | NCBI36 |
| NG_008799.2:g.723637A>C | |
| NG_008799.3:g.723855A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*2568+10A>C | ENSP00000499659.2:n.*2568+10A>C | |
| ENST00000659194.3:c.11464+10A>C | ENSP00000499653.3:n.11464+10A>C | |
| ENST00000660292.2:c.11464+10A>C | ENSP00000499787.2:n.11464+10A>C | |
| ENST00000659194.2:c.3653+10A>C | ||
| ENST00000366574.7:c.11476+10A>C MANE Select | ENSP00000355533.2:n.11476+10A>C | |
| ENST00000659194.1:c.3653+10A>C | ||
| ENST00000660292.1:c.1496+10A>C | ||
| ENST00000360064.7:c.11428+10A>C | ENSP00000353174.7:n.11428+10A>C | |
| ENST00000366574.6:c.11476+10A>C | ENSP00000355533.2:n.11476+10A>C | |
| ENST00000609119.1:n.2671+10A>C | ||
| NM_001035.2:c.11476+10A>C | NP_001026.2:n.11476+10A>C | |
| XM_006711802.2:c.11530+10A>C | XP_006711865.1:n.11530+10A>C | |
| XM_006711803.2:c.11527+10A>C | XP_006711866.1:n.11527+10A>C | |
| XM_006711804.2:c.11506+10A>C | XP_006711867.1:n.11506+10A>C | |
| XM_006711805.2:c.11500+10A>C | XP_006711868.1:n.11500+10A>C | |
| XM_006711806.2:c.11494+10A>C | XP_006711869.1:n.11494+10A>C | |
| XM_006711807.2:c.11470+10A>C | XP_006711870.1:n.11470+10A>C | |
| XM_006711808.2:c.11293+10A>C | XP_006711871.1:n.11293+10A>C | |
| XM_006711810.2:c.11437+10A>C | XP_006711873.1:n.11437+10A>C | |
| XM_006711802.3:c.11530+10A>C | XP_006711865.1:n.11530+10A>C | |
| XM_006711803.3:c.11527+10A>C | XP_006711866.1:n.11527+10A>C | |
| XM_006711804.3:c.11506+10A>C | XP_006711867.1:n.11506+10A>C | |
| XM_006711805.3:c.11500+10A>C | XP_006711868.1:n.11500+10A>C | |
| XM_006711806.3:c.11494+10A>C | XP_006711869.1:n.11494+10A>C | |
| XM_006711807.3:c.11470+10A>C | XP_006711870.1:n.11470+10A>C | |
| XM_006711808.3:c.11293+10A>C | XP_006711871.1:n.11293+10A>C | |
| XM_006711810.3:c.11437+10A>C | XP_006711873.1:n.11437+10A>C | |
| XM_017002028.1:c.11509+10A>C | XP_016857517.1:n.11509+10A>C | |
| NM_001035.3:c.11476+10A>C MANE Select | NP_001026.2:n.11476+10A>C |