gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20785495 (SAS)
Genomes Max Group AF
0.20785495 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.153677988C>T , CM000667.2:g.153677988C>T | GRCh38 |
| NC_000005.9:g.153057548C>T , CM000667.1:g.153057548C>T | GRCh37 |
| NC_000005.8:g.153037741C>T | NCBI36 |
| NG_047078.1:g.193293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340592.10:c.1029+827C>T | ENSP00000339343.5:n.1029+827C>T | |
| ENST00000706733.1:c.1029+827C>T | ENSP00000516520.1:n.1029+827C>T | |
| ENST00000706734.1:c.1056+827C>T | ENSP00000516521.1:n.1056+827C>T | |
| ENST00000285900.10:c.1029+827C>T MANE Select | ENSP00000285900.4:n.1029+827C>T | |
| ENST00000285900.9:c.1029+827C>T | ENSP00000285900.4:n.1029+827C>T | |
| ENST00000340592.9:c.1029+827C>T | ENSP00000339343.5:n.1029+827C>T | |
| ENST00000448073.8:c.1059+827C>T | ENSP00000415569.2:n.1059+827C>T | |
| ENST00000481559.6:n.1170+827C>T | ||
| ENST00000518142.5:c.789+827C>T | ENSP00000427920.1:n.789+827C>T | |
| ENST00000518783.1:c.1059+827C>T | ENSP00000428994.1:n.1059+827C>T | |
| ENST00000521843.6:c.822+827C>T | ENSP00000427864.2:n.822+827C>T | |
| NM_000827.3:c.1029+827C>T | NP_000818.2:n.1029+827C>T | |
| NM_001114183.1:c.1029+827C>T | NP_001107655.1:n.1029+827C>T | |
| NM_001258019.1:c.789+827C>T | NP_001244948.1:n.789+827C>T | |
| NM_001258020.1:c.744+827C>T | NP_001244949.1:n.744+827C>T | |
| NM_001258021.1:c.1059+827C>T | NP_001244950.1:n.1059+827C>T | |
| NM_001258022.1:c.1059+827C>T | NP_001244951.1:n.1059+827C>T | |
| NM_001258023.1:c.822+827C>T | NP_001244952.1:n.822+827C>T | |
| NR_047578.1:n.1256+827C>T | ||
| XM_011537635.1:c.969+827C>T | XP_011535937.1:n.969+827C>T | |
| XR_427776.2:n.1299+827C>T | ||
| NM_001364165.1:c.861+3327C>T | NP_001351094.1:n.861+3327C>T | |
| NM_001364166.1:c.1056+827C>T | NP_001351095.1:n.1056+827C>T | |
| NM_001364167.1:c.822+827C>T | NP_001351096.1:n.822+827C>T | |
| NR_157093.1:n.1248+827C>T | ||
| XM_017009392.1:c.1059+827C>T | XP_016864881.1:n.1059+827C>T | |
| NM_000827.4:c.1029+827C>T MANE Select | NP_000818.2:n.1029+827C>T | |
| NM_001114183.2:c.1029+827C>T | NP_001107655.1:n.1029+827C>T | |
| NM_001258019.2:c.789+827C>T | NP_001244948.1:n.789+827C>T | |
| NM_001258020.2:c.744+827C>T | NP_001244949.1:n.744+827C>T | |
| NM_001258021.2:c.1059+827C>T | NP_001244950.1:n.1059+827C>T | |
| NM_001258022.2:c.1059+827C>T | NP_001244951.1:n.1059+827C>T | |
| NM_001364165.2:c.861+3327C>T | NP_001351094.1:n.861+3327C>T | |
| NM_001364166.2:c.1056+827C>T | NP_001351095.1:n.1056+827C>T | |
| NM_001364167.2:c.822+827C>T | NP_001351096.1:n.822+827C>T | |
| NR_047578.2:n.1110+827C>T | ||
| NR_157093.2:n.1248+827C>T |