gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39830774 (EAS)
Genomes Max Group AF
0.39830774 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26942692C>T , CM000666.2:g.26942692C>T | GRCh38 |
| NC_000004.11:g.26944314C>T , CM000666.1:g.26944314C>T | GRCh37 |
| NC_000004.10:g.26553412C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698882.1:c.544-14920C>T | ENSP00000514004.1:n.544-14920C>T | |
| ENST00000465503.6:c.283-14920C>T | ENSP00000417569.2:n.283-14920C>T | |
| ENST00000467011.6:c.283-14920C>T | ENSP00000419383.2:n.283-14920C>T | |
| ENST00000467087.7:c.283-14920C>T MANE Select | ENSP00000419073.2:n.283-14920C>T | |
| ENST00000477474.3:c.124-14920C>T | ENSP00000419536.3:n.124-14920C>T | |
| ENST00000463501.5:c.124-14920C>T | ENSP00000473283.1:n.124-14920C>T | |
| ENST00000465503.5:c.283-14920C>T | ENSP00000417569.1:n.283-14920C>T | |
| ENST00000467011.5:c.283-14920C>T | ENSP00000419383.1:n.283-14920C>T | |
| ENST00000467087.5:c.283-14920C>T | ENSP00000419073.1:n.283-14920C>T | |
| ENST00000478049.1:c.124-14920C>T | ENSP00000473581.1:n.124-14920C>T | |
| ENST00000494628.6:c.124-14920C>T | ENSP00000473527.1:n.124-14920C>T | |
| NM_001169117.1:c.283-14920C>T | NP_001162588.1:n.283-14920C>T | |
| NM_001169118.1:c.283-14920C>T | NP_001162589.1:n.283-14920C>T | |
| NM_020860.3:c.283-14920C>T | NP_065911.3:n.283-14920C>T | |
| NM_001169117.2:c.283-14920C>T | NP_001162588.1:n.283-14920C>T | |
| NM_001169118.2:c.283-14920C>T | NP_001162589.1:n.283-14920C>T | |
| NM_020860.4:c.283-14920C>T MANE Select | NP_065911.3:n.283-14920C>T |