gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46254184 (AFR)
Genomes Max Group AF
0.46254184 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101136660A>T , CM000669.2:g.101136660A>T | GRCh38 |
| NC_000007.13:g.100779941A>T , CM000669.1:g.100779941A>T | GRCh37 |
| NC_000007.12:g.100566661A>T | NCBI36 |
| NG_013213.1:g.14563A>T , LRG_597:g.14563A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.1088-341A>T MANE Select | ENSP00000223095.4:n.1088-341A>T | |
| ENST00000223095.4:c.1088-341A>T | ENSP00000223095.4:n.1088-341A>T | |
| NM_000602.4:c.1088-341A>T , LRG_597t1:c.1088-341A>T | NP_000593.1:n.1088-341A>T | |
| NM_000602.5:c.1088-341A>T MANE Select | NP_000593.1:n.1088-341A>T | |
| NM_001386456.1:c.836-341A>T | NP_001373385.1:n.836-341A>T | |
| NM_001386457.1:c.1001-390A>T | NP_001373386.1:n.1001-390A>T | |
| NM_001386458.1:c.1088-320A>T | NP_001373387.1:n.1088-320A>T | |
| NM_001386459.1:c.1088-341A>T | NP_001373388.1:n.1088-341A>T | |
| NM_001386460.1:c.1088-341A>T | NP_001373389.1:n.1088-341A>T | |
| NM_001386461.1:c.1087+859A>T | NP_001373390.1:n.1087+859A>T | |
| NM_001386462.1:c.887-341A>T | NP_001373391.1:n.887-341A>T | |
| NM_001386463.1:c.1082-341A>T | NP_001373392.1:n.1082-341A>T | |
| NM_001386464.1:c.1088-341A>T | NP_001373393.1:n.1088-341A>T | |
| NM_001386465.1:c.1103-341A>T | NP_001373394.1:n.1103-341A>T | |
| NM_001386466.1:c.1112-341A>T | NP_001373395.1:n.1112-341A>T |