gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48327984 (EAS)
Genomes Max Group AF
0.48327984 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51922034G>T , CM000672.2:g.51922034G>T | GRCh38 |
| NC_000010.10:g.53681794G>T , CM000672.1:g.53681794G>T | GRCh37 |
| NC_000010.9:g.53351800G>T | NCBI36 |
| NG_029982.1:g.935884G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373976.9:c.762+14464G>T | ENSP00000363087.4:n.762+14464G>T | |
| ENST00000373980.11:c.762+14464G>T MANE Select | ENSP00000363092.5:n.762+14464G>T | |
| ENST00000401604.8:c.717+14464G>T | ENSP00000384200.4:n.717+14464G>T | |
| ENST00000645324.1:c.762+14464G>T | ENSP00000494124.1:n.762+14464G>T | |
| ENST00000373976.8:c.336+14464G>T | ENSP00000363087.3:n.336+14464G>T | |
| ENST00000373980.8:c.762+14464G>T | ENSP00000363092.4:n.762+14464G>T | |
| ENST00000373985.5:c.717+14464G>T | ENSP00000363097.2:n.717+14464G>T | |
| ENST00000401604.6:c.81+14464G>T | ENSP00000384200.3:n.81+14464G>T | |
| NM_001098512.2:c.717+14464G>T | NP_001091982.1:n.717+14464G>T | |
| NM_006258.3:c.762+14464G>T | NP_006249.1:n.762+14464G>T | |
| XM_011539952.1:c.762+14464G>T | XP_011538254.1:n.762+14464G>T | |
| NM_001098512.3:c.717+14464G>T | NP_001091982.1:n.717+14464G>T | |
| NM_006258.4:c.762+14464G>T MANE Select | NP_006249.1:n.762+14464G>T | |
| XM_011539952.2:c.762+14464G>T | XP_011538254.1:n.762+14464G>T | |
| XM_017016412.1:c.477+14464G>T | XP_016871901.1:n.477+14464G>T | |
| XM_017016413.1:c.459+14464G>T | XP_016871902.1:n.459+14464G>T | |
| NM_001374782.1:c.762+14464G>T | NP_001361711.1:n.762+14464G>T |