dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2633792 (NFE)
Genomes Max Group AF
0.2633792 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237747704C>T , CM000663.2:g.237747704C>T | GRCh38 |
| NC_000001.10:g.237911004C>T , CM000663.1:g.237911004C>T | GRCh37 |
| NC_000001.9:g.235977627C>T | NCBI36 |
| NG_008799.2:g.710303C>T | |
| NG_008799.3:g.710521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*2180+5355C>T | ENSP00000499659.2:n.*2180+5355C>T | |
| ENST00000659194.3:c.11133+4081C>T | ENSP00000499653.3:n.11133+4081C>T | |
| ENST00000660292.2:c.11133+4081C>T | ENSP00000499787.2:n.11133+4081C>T | |
| ENST00000659194.2:c.3322+4081C>T | ||
| ENST00000366574.7:c.11145+5355C>T MANE Select | ENSP00000355533.2:n.11145+5355C>T | |
| ENST00000659194.1:c.3322+4081C>T | ||
| ENST00000660292.1:c.1165+4081C>T | ||
| ENST00000360064.7:c.11097+5355C>T | ENSP00000353174.7:n.11097+5355C>T | |
| ENST00000366574.6:c.11145+5355C>T | ENSP00000355533.2:n.11145+5355C>T | |
| ENST00000609119.1:n.2283+5355C>T | ||
| NM_001035.2:c.11145+5355C>T | NP_001026.2:n.11145+5355C>T | |
| XM_006711802.2:c.11199+4081C>T | XP_006711865.1:n.11199+4081C>T | |
| XM_006711803.2:c.11196+4081C>T | XP_006711866.1:n.11196+4081C>T | |
| XM_006711804.2:c.11175+5355C>T | XP_006711867.1:n.11175+5355C>T | |
| XM_006711805.2:c.11169+4081C>T | XP_006711868.1:n.11169+4081C>T | |
| XM_006711806.2:c.11163+4081C>T | XP_006711869.1:n.11163+4081C>T | |
| XM_006711807.2:c.11139+5355C>T | XP_006711870.1:n.11139+5355C>T | |
| XM_006711808.2:c.10962+4081C>T | XP_006711871.1:n.10962+4081C>T | |
| XM_006711810.2:c.11106+5355C>T | XP_006711873.1:n.11106+5355C>T | |
| XM_006711802.3:c.11199+4081C>T | XP_006711865.1:n.11199+4081C>T | |
| XM_006711803.3:c.11196+4081C>T | XP_006711866.1:n.11196+4081C>T | |
| XM_006711804.3:c.11175+5355C>T | XP_006711867.1:n.11175+5355C>T | |
| XM_006711805.3:c.11169+4081C>T | XP_006711868.1:n.11169+4081C>T | |
| XM_006711806.3:c.11163+4081C>T | XP_006711869.1:n.11163+4081C>T | |
| XM_006711807.3:c.11139+5355C>T | XP_006711870.1:n.11139+5355C>T | |
| XM_006711808.3:c.10962+4081C>T | XP_006711871.1:n.10962+4081C>T | |
| XM_006711810.3:c.11106+5355C>T | XP_006711873.1:n.11106+5355C>T | |
| XM_017002028.1:c.11178+4081C>T | XP_016857517.1:n.11178+4081C>T | |
| NM_001035.3:c.11145+5355C>T MANE Select | NP_001026.2:n.11145+5355C>T |