gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63884555 (SAS)
Genomes Max Group AF
0.63884555 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.48102597G>T , CM000669.2:g.48102597G>T | GRCh38 |
| NC_000007.13:g.48142194G>T , CM000669.1:g.48142194G>T | GRCh37 |
| NC_000007.12:g.48108719G>T | NCBI36 |
| NG_051802.1:g.18995G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395564.9:c.321+615G>T MANE Select | ENSP00000378931.4:n.321+615G>T | |
| ENST00000331803.8:c.321+615G>T | ENSP00000330032.4:n.321+615G>T | |
| ENST00000395560.7:c.45-4276G>T | ENSP00000378927.3:n.45-4276G>T | |
| ENST00000395564.8:c.321+615G>T | ENSP00000378931.4:n.321+615G>T | |
| ENST00000416681.5:c.321+615G>T | ENSP00000405209.1:n.321+615G>T | |
| ENST00000417464.6:c.45-4276G>T | ENSP00000413611.2:n.45-4276G>T | |
| ENST00000421046.5:c.321+615G>T | ENSP00000414963.1:n.321+615G>T | |
| ENST00000436673.5:c.321+615G>T | ENSP00000390118.1:n.321+615G>T | |
| ENST00000444999.5:c.210-700G>T | ENSP00000396820.1:n.210-700G>T | |
| ENST00000457596.5:c.45-4276G>T | ENSP00000408899.1:n.45-4276G>T | |
| ENST00000482015.5:n.302+727G>T | ||
| NM_001287426.1:c.321+615G>T | NP_001274355.1:n.321+615G>T | |
| NM_001287428.1:c.26-4276G>T | NP_001274357.1:n.26-4276G>T | |
| NM_001287429.1:c.26-4276G>T | NP_001274358.1:n.26-4276G>T | |
| NM_001287430.1:c.26-4276G>T | NP_001274359.1:n.26-4276G>T | |
| NM_003364.3:c.321+615G>T | NP_003355.1:n.321+615G>T | |
| NR_109837.1:n.392+727G>T | ||
| XM_005249838.3:c.129+615G>T | XP_005249895.1:n.129+615G>T | |
| XM_006715771.2:c.321+615G>T | XP_006715834.1:n.321+615G>T | |
| XM_011515512.1:c.321+615G>T | XP_011513814.1:n.321+615G>T | |
| XM_011515513.1:c.73-700G>T | XP_011513815.1:n.73-700G>T | |
| XM_011515514.1:c.73-700G>T | XP_011513816.1:n.73-700G>T | |
| XM_011515515.1:c.-6-700G>T | XP_011513817.1:n.-6-700G>T | |
| XM_011515516.1:c.321+615G>T | XP_011513818.1:n.321+615G>T | |
| NM_001362774.1:c.321+615G>T | NP_001349703.1:n.321+615G>T | |
| XM_005249838.4:c.129+615G>T | XP_005249895.1:n.129+615G>T | |
| XM_011515512.2:c.321+615G>T | XP_011513814.1:n.321+615G>T | |
| XM_011515513.2:c.73-700G>T | XP_011513815.1:n.73-700G>T | |
| XM_011515514.2:c.73-700G>T | XP_011513816.1:n.73-700G>T | |
| XM_011515515.2:c.-6-700G>T | XP_011513817.1:n.-6-700G>T | |
| NM_003364.4:c.321+615G>T MANE Select | NP_003355.1:n.321+615G>T | |
| NM_001287429.2:c.26-4276G>T | NP_001274358.1:n.26-4276G>T | |
| NM_001287426.2:c.321+615G>T | NP_001274355.1:n.321+615G>T | |
| NM_001287428.2:c.26-4276G>T | NP_001274357.1:n.26-4276G>T | |
| NM_001362774.2:c.321+615G>T | NP_001349703.1:n.321+615G>T |