gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14059423 (EAS)
Genomes Max Group AF
0.14059423 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.21204867T>A , CM000666.2:g.21204867T>A | GRCh38 |
| NC_000004.11:g.21206490T>A , CM000666.1:g.21206490T>A | GRCh37 |
| NC_000004.10:g.20815588T>A | NCBI36 |
| NG_052969.1:g.748885A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382152.7:c.62-322158A>T MANE Select | ENSP00000371587.2:n.62-322158A>T | |
| ENST00000382148.7:c.89-354200A>T | ENSP00000371583.3:n.89-354200A>T | |
| ENST00000382150.8:c.100+98940A>T | ENSP00000371585.4:n.100+98940A>T | |
| ENST00000382152.6:c.62-322158A>T | ENSP00000371587.2:n.62-322158A>T | |
| ENST00000447367.6:c.62-354200A>T | ENSP00000399080.2:n.62-354200A>T | |
| ENST00000509207.1:c.-24+339523A>T | ENSP00000423257.1:n.-24+339523A>T | |
| ENST00000515786.2:c.174-354200A>T | ENSP00000445321.1:n.174-354200A>T | |
| NM_001035003.1:c.89-354200A>T | NP_001030175.1:n.89-354200A>T | |
| NM_001035004.1:c.-24+339523A>T | NP_001030176.1:n.-24+339523A>T | |
| NM_025221.5:c.62-322158A>T | NP_079497.2:n.62-322158A>T | |
| NM_147181.3:c.62-354200A>T | NP_671710.1:n.62-354200A>T | |
| NM_147182.3:c.-23-354200A>T | NP_671711.1:n.-23-354200A>T | |
| NM_147183.3:c.100+98940A>T | NP_671712.1:n.100+98940A>T | |
| XM_011513882.1:c.62-322158A>T | XP_011512184.1:n.62-322158A>T | |
| XM_011513884.1:c.100+98940A>T | XP_011512186.1:n.100+98940A>T | |
| XM_011513885.1:c.89-354200A>T | XP_011512187.1:n.89-354200A>T | |
| XM_011513886.1:c.62-354200A>T | XP_011512188.1:n.62-354200A>T | |
| XM_011513887.1:c.-24+339523A>T | XP_011512189.1:n.-24+339523A>T | |
| XM_011513888.1:c.-23-354200A>T | XP_011512190.1:n.-23-354200A>T | |
| XM_011513885.3:c.89-354200A>T | XP_011512187.1:n.89-354200A>T | |
| XM_011513887.2:c.-24+339523A>T | XP_011512189.1:n.-24+339523A>T | |
| NM_025221.6:c.62-322158A>T MANE Select | NP_079497.2:n.62-322158A>T | |
| NM_001035003.2:c.89-354200A>T | NP_001030175.1:n.89-354200A>T | |
| NM_001035004.2:c.-24+339523A>T | NP_001030176.1:n.-24+339523A>T | |
| NM_147181.4:c.62-354200A>T | NP_671710.1:n.62-354200A>T | |
| NM_147182.4:c.-23-354200A>T | NP_671711.1:n.-23-354200A>T |