gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27533493 (AMR)
Genomes Max Group AF
0.27533493 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12393380C>T , CM000672.2:g.12393380C>T | GRCh38 |
| NC_000010.10:g.12435379C>T , CM000672.1:g.12435379C>T | GRCh37 |
| NC_000010.9:g.12475385C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619168.5:c.92+43470C>T MANE Select | ENSP00000478874.1:n.92+43470C>T | |
| ENST00000378845.5:c.92+43470C>T | ENSP00000368122.1:n.92+43470C>T | |
| ENST00000487696.1:n.259+43470C>T | ||
| ENST00000619168.4:c.92+43470C>T | ENSP00000478874.1:n.92+43470C>T | |
| NM_020397.3:c.92+43470C>T | NP_065130.1:n.92+43470C>T | |
| NM_153498.3:c.92+43470C>T | NP_705718.1:n.92+43470C>T | |
| XM_006717482.2:c.92+43470C>T | XP_006717545.1:n.92+43470C>T | |
| XM_006717483.2:c.92+43470C>T | XP_006717546.1:n.92+43470C>T | |
| XM_011519591.1:c.53+4323C>T | XP_011517893.1:n.53+4323C>T | |
| NM_001351032.1:c.-468+3381C>T | NP_001337961.1:n.-468+3381C>T | |
| XM_006717482.3:c.92+43470C>T | XP_006717545.1:n.92+43470C>T | |
| XM_006717483.4:c.92+43470C>T | XP_006717546.1:n.92+43470C>T | |
| XM_011519591.3:c.53+4323C>T | XP_011517893.1:n.53+4323C>T | |
| XM_017016438.2:c.-467-9722C>T | XP_016871927.1:n.-467-9722C>T | |
| XM_024448087.1:c.-468+3381C>T | XP_024303855.1:n.-468+3381C>T | |
| NM_001351032.2:c.-468+3381C>T | NP_001337961.1:n.-468+3381C>T | |
| NM_020397.4:c.92+43470C>T | NP_065130.1:n.92+43470C>T | |
| NM_153498.4:c.92+43470C>T MANE Select | NP_705718.1:n.92+43470C>T |