ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00469385 (MID)
Genomes Max Group AF
0.00067717 (NFE)
Exomes Max Group AF
0.00433582 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39383736C>T , CM000665.2:g.39383736C>T | GRCh38 |
| NC_000003.11:g.39425227C>T , CM000665.1:g.39425227C>T | GRCh37 |
| NC_000003.10:g.39400231C>T | NCBI36 |
| NG_016931.1:g.5413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.12C>T | ENSP00000495376.1:p.Asn4= | |
| ENST00000645630.1:c.12C>T | ENSP00000493714.1:p.Asn4= | |
| ENST00000648579.1:c.12C>T | ENSP00000497638.1:p.Asn4= | |
| ENST00000650617.1:c.12C>T MANE Select | ENSP00000497532.1:p.Asn4= | |
| ENST00000273158.8:c.12C>T | ENSP00000273158.3:p.Asn4= | |
| ENST00000431510.1:c.-29C>T | ENSP00000394244.1:n.-29C>T | |
| NM_017875.2:c.12C>T | NP_060345.2:p.Asn4= | |
| XM_006713214.1:c.-29C>T | XP_006713277.1:n.-29C>T | |
| XM_011533871.1:c.12C>T | XP_011532173.1:p.Asn4= | |
| NM_001354798.1:c.12C>T | NP_001341727.1:p.Asn4= | |
| NM_017875.4:c.12C>T MANE Select | NP_060345.2:p.Asn4= | |
| XM_006713214.2:c.-29C>T | XP_006713277.1:n.-29C>T | |
| NM_001354798.2:c.12C>T | NP_001341727.1:p.Asn4= |