dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55636599 (AMR)
Genomes Max Group AF
0.55636599 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.32168933C>T , CM000670.2:g.32168933C>T | GRCh38 |
| NC_000008.10:g.32026449C>T , CM000670.1:g.32026449C>T | GRCh37 |
| NC_000008.9:g.32145991C>T | NCBI36 |
| NG_012005.1:g.534182C>T | |
| NG_012005.2:g.534712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519301.6:c.38-426895C>T | ENSP00000429582.1:n.38-426895C>T | |
| ENST00000650856.1:c.38-426895C>T | ENSP00000498216.1:n.38-426895C>T | |
| ENST00000650866.1:c.38-426895C>T | ENSP00000499045.1:n.38-426895C>T | |
| ENST00000651149.1:c.38-426895C>T | ENSP00000498375.1:n.38-426895C>T | |
| ENST00000651335.1:c.72-426895C>T | ||
| ENST00000652698.1:c.38-426895C>T | ENSP00000499008.1:n.38-426895C>T | |
| ENST00000518104.5:c.38-426895C>T | ENSP00000430053.1:n.38-426895C>T | |
| ENST00000519301.5:c.38-426895C>T | ENSP00000429582.1:n.38-426895C>T | |
| ENST00000520407.5:c.746-426895C>T | ENSP00000434640.1:n.746-426895C>T | |
| ENST00000523534.5:c.305-426895C>T | ENSP00000429067.1:n.305-426895C>T | |
| NM_001159995.1:c.38-426895C>T | NP_001153467.1:n.38-426895C>T | |
| NM_001159999.1:c.38-426895C>T | NP_001153471.1:n.38-426895C>T | |
| NM_001160001.1:c.38-426895C>T | NP_001153473.1:n.38-426895C>T | |
| NM_013962.2:c.746-426895C>T | NP_039256.2:n.746-426895C>T | |
| XM_011544512.1:c.122-426895C>T | XP_011542814.1:n.122-426895C>T | |
| NM_001159995.2:c.38-426895C>T | NP_001153467.1:n.38-426895C>T | |
| NM_001159999.2:c.38-426895C>T | NP_001153471.1:n.38-426895C>T | |
| NM_001160001.2:c.38-426895C>T | NP_001153473.1:n.38-426895C>T | |
| NM_001322201.1:c.-555-426895C>T | NP_001309130.1:n.-555-426895C>T | |
| NM_001322202.1:c.-504-426895C>T | NP_001309131.1:n.-504-426895C>T | |
| XM_011544512.2:c.122-426895C>T | XP_011542814.1:n.122-426895C>T | |
| XM_017013365.2:c.122-426895C>T | XP_016868854.1:n.122-426895C>T | |
| XM_017013366.2:c.122-426895C>T | XP_016868855.1:n.122-426895C>T | |
| XM_017013367.1:c.122-426895C>T | XP_016868856.1:n.122-426895C>T | |
| XM_017013371.2:c.122-426895C>T | XP_016868860.1:n.122-426895C>T | |
| XM_017013372.2:c.122-426895C>T | XP_016868861.1:n.122-426895C>T | |
| NM_001159995.3:c.38-426895C>T | NP_001153467.1:n.38-426895C>T | |
| NM_001159999.3:c.38-426895C>T | NP_001153471.1:n.38-426895C>T | |
| NM_001160001.3:c.38-426895C>T | NP_001153473.1:n.38-426895C>T | |
| NM_001322201.2:c.-555-426895C>T | NP_001309130.1:n.-555-426895C>T | |
| NM_001322202.2:c.-504-426895C>T | NP_001309131.1:n.-504-426895C>T | |
| NM_013962.3:c.746-426895C>T | NP_039256.2:n.746-426895C>T |