gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54932108 (AFR)
Genomes Max Group AF
0.54932108 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102657480G>A , CM000666.2:g.102657480G>A | GRCh38 |
| NC_000004.11:g.103578637G>A , CM000666.1:g.103578637G>A | GRCh37 |
| NC_000004.10:g.103797685G>A | NCBI36 |
| NG_012804.1:g.108515C>T | |
| NG_012804.2:g.108515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.1842+202C>T | ENSP00000495483.1:n.1842+202C>T | |
| ENST00000644159.1:c.1704+202C>T | ENSP00000494462.1:n.1704+202C>T | |
| ENST00000644545.1:c.*344+202C>T | ENSP00000493992.1:n.*344+202C>T | |
| ENST00000645348.1:c.*726+202C>T | ENSP00000495363.1:n.*726+202C>T | |
| ENST00000645558.1:c.1372+202C>T | ||
| ENST00000646311.1:c.*824+202C>T | ENSP00000493465.1:n.*824+202C>T | |
| ENST00000646727.1:c.*558+202C>T | ENSP00000493519.1:n.*558+202C>T | |
| ENST00000647097.2:c.1704+202C>T MANE Select | ENSP00000495247.1:n.1704+202C>T | |
| ENST00000647129.1:c.1793+202C>T | ENSP00000496137.1:n.1793+202C>T | |
| ENST00000226578.8:c.1704+202C>T | ENSP00000226578.4:n.1704+202C>T | |
| ENST00000505239.1:c.1533+202C>T | ENSP00000427322.1:n.1533+202C>T | |
| ENST00000514430.5:n.5939+202C>T | ||
| NM_005908.3:c.1704+202C>T | NP_005899.3:n.1704+202C>T | |
| XM_011531965.1:c.798+202C>T | XP_011530267.1:n.798+202C>T | |
| XM_011531966.1:c.459+202C>T | XP_011530268.1:n.459+202C>T | |
| XM_017008203.1:c.1341+202C>T | XP_016863692.1:n.1341+202C>T | |
| XM_017008204.2:c.1056+202C>T | XP_016863693.1:n.1056+202C>T | |
| XM_017008205.2:c.498+202C>T | XP_016863694.1:n.498+202C>T | |
| XM_024454048.1:c.1629+202C>T | XP_024309816.1:n.1629+202C>T | |
| XM_024454049.1:c.1341+202C>T | XP_024309817.1:n.1341+202C>T | |
| NM_005908.4:c.1704+202C>T MANE Select | NP_005899.3:n.1704+202C>T |