gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8277211 (EAS)
Genomes Max Group AF
0.8277211 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.85555773C>T , CM000665.2:g.85555773C>T | GRCh38 |
| NC_000003.11:g.85604923C>T , CM000665.1:g.85604923C>T | GRCh37 |
| NC_000003.10:g.85687613C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383699.8:c.62-170749C>T MANE Select | ENSP00000373200.3:n.62-170749C>T | |
| ENST00000383699.7:c.62-170749C>T | ENSP00000373200.3:n.62-170749C>T | |
| ENST00000407528.6:c.62-246274C>T | ENSP00000384575.2:n.62-246274C>T | |
| NM_001167674.1:c.62-246274C>T | NP_001161146.1:n.62-246274C>T | |
| NM_001167675.1:c.62-170749C>T | NP_001161147.1:n.62-170749C>T | |
| NM_001256502.1:c.-264+43875C>T | NP_001243431.1:n.-264+43875C>T | |
| NM_001256503.1:c.-114+43875C>T | NP_001243432.1:n.-114+43875C>T | |
| NM_001256504.1:c.-291+43875C>T | NP_001243433.1:n.-291+43875C>T | |
| NM_001256505.1:c.-264+43875C>T | NP_001243434.1:n.-264+43875C>T | |
| XM_006713081.2:c.62-246274C>T | XP_006713144.1:n.62-246274C>T | |
| XM_006713082.2:c.62-246274C>T | XP_006713145.1:n.62-246274C>T | |
| XM_006713081.4:c.62-246274C>T | XP_006713144.1:n.62-246274C>T | |
| XM_006713082.3:c.62-246274C>T | XP_006713145.1:n.62-246274C>T | |
| XM_017006062.2:c.103+43875C>T | XP_016861551.1:n.103+43875C>T | |
| NM_001167674.2:c.62-246274C>T | NP_001161146.1:n.62-246274C>T | |
| NM_001167675.2:c.62-170749C>T MANE Select | NP_001161147.1:n.62-170749C>T | |
| NM_001256502.2:c.-264+43875C>T | NP_001243431.1:n.-264+43875C>T | |
| NM_001256503.2:c.-114+43875C>T | NP_001243432.1:n.-114+43875C>T | |
| NM_001256504.2:c.-291+43875C>T | NP_001243433.1:n.-291+43875C>T | |
| NM_001256505.2:c.-264+43875C>T | NP_001243434.1:n.-264+43875C>T | |
| NM_001375960.1:c.62-170749C>T | NP_001362889.1:n.62-170749C>T | |
| NM_001375961.1:c.-86-170749C>T | NP_001362890.1:n.-86-170749C>T | |
| NM_001375964.1:c.62-170749C>T | NP_001362893.1:n.62-170749C>T | |
| NM_001375967.1:c.62-170749C>T | NP_001362896.1:n.62-170749C>T | |
| NM_001375968.1:c.62-170749C>T | NP_001362897.1:n.62-170749C>T | |
| NM_001381963.1:c.62-246274C>T | NP_001368892.1:n.62-246274C>T | |
| NM_001381964.1:c.62-246274C>T | NP_001368893.1:n.62-246274C>T |