gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00145731 (AFR)
Genomes Max Group AF
0.00163078 (AFR)
Exomes Max Group AF
0.00100971 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237770901C>T , CM000663.2:g.237770901C>T | GRCh38 |
| NC_000001.10:g.237934201C>T , CM000663.1:g.237934201C>T | GRCh37 |
| NC_000001.9:g.236000824C>T | NCBI36 |
| NG_008799.2:g.733500C>T | |
| NG_008799.3:g.733718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*2649+14C>T | ENSP00000499659.2:n.*2649+14C>T | |
| ENST00000659194.3:c.11545+14C>T | ENSP00000499653.3:n.11545+14C>T | |
| ENST00000660292.2:c.11578+14C>T | ENSP00000499787.2:n.11578+14C>T | |
| ENST00000659194.2:c.3734+14C>T | ||
| ENST00000366574.7:c.11557+14C>T MANE Select | ENSP00000355533.2:n.11557+14C>T | |
| ENST00000659194.1:c.3734+14C>T | ||
| ENST00000660292.1:c.1610+14C>T | ||
| ENST00000360064.7:c.11509+14C>T | ENSP00000353174.7:n.11509+14C>T | |
| ENST00000366574.6:c.11557+14C>T | ENSP00000355533.2:n.11557+14C>T | |
| ENST00000609119.1:n.2752+14C>T | ||
| NM_001035.2:c.11557+14C>T | NP_001026.2:n.11557+14C>T | |
| XM_006711802.2:c.11611+14C>T | XP_006711865.1:n.11611+14C>T | |
| XM_006711803.2:c.11608+14C>T | XP_006711866.1:n.11608+14C>T | |
| XM_006711804.2:c.11587+14C>T | XP_006711867.1:n.11587+14C>T | |
| XM_006711805.2:c.11581+14C>T | XP_006711868.1:n.11581+14C>T | |
| XM_006711806.2:c.11575+14C>T | XP_006711869.1:n.11575+14C>T | |
| XM_006711807.2:c.11551+14C>T | XP_006711870.1:n.11551+14C>T | |
| XM_006711808.2:c.11374+14C>T | XP_006711871.1:n.11374+14C>T | |
| XM_006711810.2:c.11518+14C>T | XP_006711873.1:n.11518+14C>T | |
| XM_006711802.3:c.11611+14C>T | XP_006711865.1:n.11611+14C>T | |
| XM_006711803.3:c.11608+14C>T | XP_006711866.1:n.11608+14C>T | |
| XM_006711804.3:c.11587+14C>T | XP_006711867.1:n.11587+14C>T | |
| XM_006711805.3:c.11581+14C>T | XP_006711868.1:n.11581+14C>T | |
| XM_006711806.3:c.11575+14C>T | XP_006711869.1:n.11575+14C>T | |
| XM_006711807.3:c.11551+14C>T | XP_006711870.1:n.11551+14C>T | |
| XM_006711808.3:c.11374+14C>T | XP_006711871.1:n.11374+14C>T | |
| XM_006711810.3:c.11518+14C>T | XP_006711873.1:n.11518+14C>T | |
| XM_017002028.1:c.11590+14C>T | XP_016857517.1:n.11590+14C>T | |
| NM_001035.3:c.11557+14C>T MANE Select | NP_001026.2:n.11557+14C>T |