gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54276729 (EAS)
Genomes Max Group AF
0.54276729 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.175175985C>T , CM000665.2:g.175175985C>T | GRCh38 |
| NC_000003.11:g.174893775C>T , CM000665.1:g.174893775C>T | GRCh37 |
| NC_000003.10:g.176376469C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454872.6:c.546-57946C>T MANE Select | ENSP00000404705.1:n.546-57946C>T | |
| ENST00000454872.5:c.546-57946C>T | ENSP00000404705.1:n.546-57946C>T | |
| ENST00000473253.5:n.778-57946C>T | ||
| ENST00000485853.5:n.632-57946C>T | ||
| ENST00000489299.5:n.237-42091C>T | ||
| ENST00000614002.4:c.510-57946C>T | ENSP00000479989.1:n.510-57946C>T | |
| NM_207015.2:c.546-57946C>T | NP_996898.2:n.546-57946C>T | |
| XM_006713560.2:c.495-57946C>T | XP_006713623.1:n.495-57946C>T | |
| XM_011512612.1:c.576-57946C>T | XP_011510914.1:n.576-57946C>T | |
| XM_011512613.1:c.525-57946C>T | XP_011510915.1:n.525-57946C>T | |
| XM_011512614.1:c.495-57946C>T | XP_011510916.1:n.495-57946C>T | |
| XM_011512615.1:c.576-57946C>T | XP_011510917.1:n.576-57946C>T | |
| XM_011512616.1:c.26+51344C>T | XP_011510918.1:n.26+51344C>T | |
| XM_011512617.1:c.576-57946C>T | XP_011510919.1:n.576-57946C>T | |
| XM_006713560.3:c.495-57946C>T | XP_006713623.1:n.495-57946C>T | |
| XM_011512612.3:c.576-57946C>T | XP_011510914.1:n.576-57946C>T | |
| XM_011512613.2:c.525-57946C>T | XP_011510915.1:n.525-57946C>T | |
| XM_011512615.3:c.576-57946C>T | XP_011510917.1:n.576-57946C>T | |
| XM_011512616.3:c.26+51344C>T | XP_011510918.1:n.26+51344C>T | |
| XM_011512617.3:c.576-57946C>T | XP_011510919.1:n.576-57946C>T | |
| XM_017006070.2:c.495-57946C>T | XP_016861559.1:n.495-57946C>T | |
| XM_017006071.2:c.495-57946C>T | XP_016861560.1:n.495-57946C>T | |
| XM_017006072.2:c.495-57946C>T | XP_016861561.1:n.495-57946C>T | |
| XM_017006073.2:c.495-57946C>T | XP_016861562.1:n.495-57946C>T | |
| XM_017006074.2:c.495-57946C>T | XP_016861563.1:n.495-57946C>T | |
| XM_017006075.2:c.495-57946C>T | XP_016861564.1:n.495-57946C>T | |
| XM_017006076.2:c.495-57946C>T | XP_016861565.1:n.495-57946C>T | |
| XM_017006077.2:c.495-57946C>T | XP_016861566.1:n.495-57946C>T | |
| XM_017006078.2:c.495-57946C>T | XP_016861567.1:n.495-57946C>T | |
| XM_017006079.2:c.495-57946C>T | XP_016861568.1:n.495-57946C>T | |
| XM_017006080.2:c.495-57946C>T | XP_016861569.1:n.495-57946C>T | |
| XM_017006081.2:c.576-57946C>T | XP_016861570.1:n.576-57946C>T | |
| XM_017006082.2:c.495-57946C>T | XP_016861571.1:n.495-57946C>T | |
| XM_017006083.2:c.-34-57946C>T | XP_016861572.1:n.-34-57946C>T | |
| NM_207015.3:c.546-57946C>T MANE Select | NP_996898.2:n.546-57946C>T |