gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30018027 (AFR)
Genomes Max Group AF
0.30018027 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119890100C>A , CM000665.2:g.119890100C>A | GRCh38 |
| NC_000003.11:g.119608947C>A , CM000665.1:g.119608947C>A | GRCh37 |
| NC_000003.10:g.121091637C>A | NCBI36 |
| NG_012922.1:g.209318G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264235.13:c.814-13592G>T MANE Select | ENSP00000264235.9:n.814-13592G>T | |
| ENST00000316626.6:c.814-13592G>T | ENSP00000324806.5:n.814-13592G>T | |
| ENST00000650344.2:c.814-13592G>T | ENSP00000497956.2:n.814-13592G>T | |
| ENST00000676566.1:n.640-13592G>T | ||
| ENST00000676887.1:c.132-13592G>T | ENSP00000502977.1:n.132-13592G>T | |
| ENST00000676948.1:c.154+10458G>T | ||
| ENST00000677046.1:c.98+15655G>T | ||
| ENST00000677069.1:c.99-9602G>T | ||
| ENST00000677362.1:c.107+22604G>T | ||
| ENST00000677483.1:c.99-7266G>T | ||
| ENST00000677502.1:n.597-13592G>T | ||
| ENST00000677648.1:c.99-9590G>T | ||
| ENST00000677716.1:c.131+25944G>T | ENSP00000503671.1:n.131+25944G>T | |
| ENST00000677788.1:n.1283-9602G>T | ||
| ENST00000677995.1:c.327-13592G>T | ENSP00000504203.1:n.327-13592G>T | |
| ENST00000678013.1:c.98+15655G>T | ||
| ENST00000678181.1:c.85-26495G>T | ENSP00000504266.1:n.85-26495G>T | |
| ENST00000678377.1:c.230-13592G>T | ENSP00000503164.1:n.230-13592G>T | |
| ENST00000678439.1:c.814-13592G>T | ENSP00000503868.1:n.814-13592G>T | |
| ENST00000678509.1:c.99-7266G>T | ||
| ENST00000678561.1:c.486+15655G>T | ENSP00000503494.1:n.486+15655G>T | |
| ENST00000678754.1:n.99-5718G>T | ||
| ENST00000678787.1:c.195-13592G>T | ||
| ENST00000679066.1:c.85-13592G>T | ENSP00000503626.1:n.85-13592G>T | |
| ENST00000679188.1:c.112-13592G>T | ENSP00000504252.1:n.112-13592G>T | |
| ENST00000679194.1:c.108-13592G>T | ||
| ENST00000679206.1:c.131+25944G>T | ENSP00000502943.1:n.131+25944G>T | |
| ENST00000264235.12:c.814-13592G>T | ENSP00000264235.8:n.814-13592G>T | |
| ENST00000316626.5:c.814-13592G>T | ENSP00000324806.5:n.814-13592G>T | |
| NM_001146156.1:c.814-13592G>T | NP_001139628.1:n.814-13592G>T | |
| NM_002093.3:c.814-13592G>T | NP_002084.2:n.814-13592G>T | |
| XM_006713610.1:c.814-13592G>T | XP_006713673.1:n.814-13592G>T | |
| XM_006713611.1:c.814-13592G>T | XP_006713674.1:n.814-13592G>T | |
| NM_001354596.1:c.814-13592G>T | NP_001341525.1:n.814-13592G>T | |
| XM_006713610.3:c.814-13592G>T | XP_006713673.1:n.814-13592G>T | |
| NM_001146156.2:c.814-13592G>T MANE Select | NP_001139628.1:n.814-13592G>T | |
| NM_001354596.2:c.814-13592G>T | NP_001341525.1:n.814-13592G>T | |
| NM_002093.4:c.814-13592G>T | NP_002084.2:n.814-13592G>T |