gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34213648 (AFR)
Genomes Max Group AF
0.33533517 (AFR)
Exomes Max Group AF
0.34761156 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111674463A>G , CM000668.2:g.111674463A>G | GRCh38 |
| NC_000006.11:g.111995666A>G , CM000668.1:g.111995666A>G | GRCh37 |
| NC_000006.10:g.112102359A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368682.8:c.1396+36T>C | ENSP00000357671.3:n.1396+36T>C | |
| ENST00000229471.8:c.1240+36T>C | ENSP00000229471.4:n.1240+36T>C | |
| ENST00000354650.7:c.1405+36T>C MANE Select | ENSP00000346671.3:n.1405+36T>C | |
| ENST00000368667.6:c.1405+36T>C | ENSP00000357656.2:n.1405+36T>C | |
| ENST00000368678.8:c.1396+36T>C | ENSP00000357667.4:n.1396+36T>C | |
| ENST00000368682.7:c.1396+36T>C | ENSP00000357671.3:n.1396+36T>C | |
| ENST00000467921.6:n.611+36T>C | ||
| ENST00000491885.6:n.258+36T>C | ||
| ENST00000538466.5:c.1396+36T>C | ENSP00000440646.1:n.1396+36T>C | |
| NM_002037.5:c.1405+36T>C MANE Select | NP_002028.1:n.1405+36T>C | |
| NM_153047.3:c.1396+36T>C | NP_694592.1:n.1396+36T>C | |
| NM_153048.3:c.1240+36T>C | NP_694593.1:n.1240+36T>C | |
| XM_005266890.2:c.1396+36T>C | XP_005266947.1:n.1396+36T>C | |
| XM_005266892.2:c.1240+36T>C | XP_005266949.1:n.1240+36T>C | |
| XM_011535662.1:c.1561+36T>C | XP_011533964.1:n.1561+36T>C | |
| XM_011535663.1:c.1561+36T>C | XP_011533965.1:n.1561+36T>C | |
| XM_011535664.1:c.1561+36T>C | XP_011533966.1:n.1561+36T>C | |
| XM_011535665.1:c.1561+36T>C | XP_011533967.1:n.1561+36T>C | |
| XM_011535666.1:c.1561+36T>C | XP_011533968.1:n.1561+36T>C | |
| XM_011535667.1:c.1561+36T>C | XP_011533969.1:n.1561+36T>C | |
| XM_011535668.1:c.1561+36T>C | XP_011533970.1:n.1561+36T>C | |
| XM_005266890.4:c.1396+36T>C | XP_005266947.1:n.1396+36T>C | |
| XM_005266892.4:c.1240+36T>C | XP_005266949.1:n.1240+36T>C | |
| XM_017010650.1:c.1405+36T>C | XP_016866139.1:n.1405+36T>C | |
| XM_017010651.1:c.1405+36T>C | XP_016866140.1:n.1405+36T>C | |
| XM_017010652.1:c.1405+36T>C | XP_016866141.1:n.1405+36T>C | |
| XM_017010653.1:c.1405+36T>C | XP_016866142.1:n.1405+36T>C | |
| XM_017010654.1:c.1405+36T>C | XP_016866143.1:n.1405+36T>C | |
| NM_001370529.1:c.1405+36T>C | NP_001357458.1:n.1405+36T>C | |
| NM_153047.4:c.1396+36T>C | NP_694592.1:n.1396+36T>C | |
| NM_153048.4:c.1240+36T>C | NP_694593.1:n.1240+36T>C |