gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15032381 (EAS)
Genomes Max Group AF
0.15060425 (EAS)
Exomes Max Group AF
0.00446436 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.33476823T>C , CM000664.2:g.33476823T>C | GRCh38 |
| NC_000002.11:g.33701890T>C , CM000664.1:g.33701890T>C | GRCh37 |
| NC_000002.10:g.33555394T>C | NCBI36 |
| NG_053077.1:g.45476T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403687.8:c.-261+116T>C MANE Select | ENSP00000384192.3:n.-261+116T>C | |
| ENST00000402538.7:c.-261+28880T>C | ENSP00000385886.3:n.-261+28880T>C | |
| ENST00000403687.7:c.-261+116T>C | ENSP00000384192.3:n.-261+116T>C | |
| ENST00000423159.5:c.-159+116T>C | ENSP00000388139.1:n.-159+116T>C | |
| ENST00000425210.5:c.-380+116T>C | ENSP00000401974.1:n.-380+116T>C | |
| ENST00000437184.5:c.-261+18693T>C | ENSP00000393866.1:n.-261+18693T>C | |
| ENST00000442390.5:c.-281+116T>C | ENSP00000405648.1:n.-281+116T>C | |
| ENST00000444784.5:c.-159+116T>C | ENSP00000400602.1:n.-159+116T>C | |
| ENST00000479528.5:n.149+28880T>C | ||
| ENST00000482857.5:n.111+116T>C | ||
| ENST00000484909.5:n.391-4360T>C | ||
| ENST00000494927.1:n.43+116T>C | ||
| ENST00000497723.6:n.304-4360T>C | ||
| NM_001139488.1:c.-261+116T>C | NP_001132960.1:n.-261+116T>C | |
| NM_170672.2:c.-261+28880T>C | NP_733772.1:n.-261+28880T>C | |
| XM_005264246.2:c.-261+116T>C | XP_005264303.1:n.-261+116T>C | |
| XM_011532746.1:c.-159+28880T>C | XP_011531048.1:n.-159+28880T>C | |
| XM_011532747.1:c.-159+116T>C | XP_011531049.1:n.-159+116T>C | |
| NM_001349975.1:c.-382-4360T>C | NP_001336904.1:n.-382-4360T>C | |
| NM_001349976.1:c.-159+116T>C | NP_001336905.1:n.-159+116T>C | |
| NM_001349977.1:c.-383+116T>C | NP_001336906.1:n.-383+116T>C | |
| NM_001349978.1:c.-261+28880T>C | NP_001336907.1:n.-261+28880T>C | |
| NM_001349979.1:c.-261+18693T>C | NP_001336908.1:n.-261+18693T>C | |
| NM_001349980.1:c.-383+116T>C | NP_001336909.1:n.-383+116T>C | |
| NM_001349981.1:c.-261+116T>C | NP_001336910.1:n.-261+116T>C | |
| XM_011532746.3:c.-159+28880T>C | XP_011531048.1:n.-159+28880T>C | |
| XM_011532748.3:c.-261+18693T>C | XP_011531050.2:n.-261+18693T>C | |
| XM_017003759.2:c.-1634-4360T>C | XP_016859248.1:n.-1634-4360T>C | |
| XR_001738691.2:n.480+116T>C | ||
| XR_001738692.2:n.480+116T>C | ||
| XR_001738693.2:n.480+116T>C | ||
| NM_001139488.2:c.-261+116T>C MANE Select | NP_001132960.1:n.-261+116T>C | |
| NM_001349975.2:c.-382-4360T>C | NP_001336904.1:n.-382-4360T>C | |
| NM_001349976.2:c.-159+116T>C | NP_001336905.1:n.-159+116T>C | |
| NM_001349977.2:c.-383+116T>C | NP_001336906.1:n.-383+116T>C | |
| NM_001349978.2:c.-261+28880T>C | NP_001336907.1:n.-261+28880T>C | |
| NM_001349979.2:c.-261+18693T>C | NP_001336908.1:n.-261+18693T>C | |
| NM_001349980.2:c.-383+116T>C | NP_001336909.1:n.-383+116T>C | |
| NM_001349981.2:c.-261+116T>C | NP_001336910.1:n.-261+116T>C | |
| NM_170672.3:c.-261+28880T>C | NP_733772.1:n.-261+28880T>C |