dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16143793 (NFE)
Genomes Max Group AF
0.16136411 (NFE)
Exomes Max Group AF
0.14467299 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124014995G>A , CM000674.2:g.124014995G>A | GRCh38 |
| NC_000012.11:g.124499542G>A , CM000674.1:g.124499542G>A | GRCh37 |
| NC_000012.10:g.123065495G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337815.9:c.*2065G>A (ZNF664) MANE Select | ENSP00000337320.4:n.*2065G>A | |
| ENST00000337815.8:c.*2065G>A (ZNF664) | ENSP00000337320.4:n.*2065G>A | |
| ENST00000389727.8:c.-234+40975G>A (RFLNA) | ENSP00000374377.4:n.-234+40975G>A | |
| ENST00000392404.7:c.*2065G>A (ZNF664) | ENSP00000376205.3:n.*2065G>A | |
| ENST00000538932.6:c.*2065G>A (ZNF664) | ENSP00000440645.1:n.*2065G>A | |
| ENST00000539644.5:c.*2065G>A (ZNF664) | ENSP00000441405.1:n.*2065G>A | |
| ENST00000545615.1:n.194+40975G>A (RFLNA) | ||
| ENST00000618862.1:c.173+26857G>A | ||
| NM_001204298.1:c.*2065G>A (ZNF664) | NP_001191227.1:n.*2065G>A | |
| NM_001204299.1:c.-234+40975G>A | NP_001191228.1:n.-234+40975G>A | |
| NM_152437.2:c.*2065G>A (ZNF664) | NP_689650.1:n.*2065G>A | |
| NM_001204299.2:c.-234+40975G>A | NP_001191228.1:n.-234+40975G>A | |
| NM_001347902.1:c.-234+40975G>A | NP_001334831.1:n.-234+40975G>A | |
| NM_152437.3:c.*2065G>A (ZNF664) MANE Select | NP_689650.1:n.*2065G>A | |
| NM_001204298.2:c.*2065G>A (ZNF664) | NP_001191227.1:n.*2065G>A | |
| NM_001204299.3:c.-234+40975G>A | NP_001191228.1:n.-234+40975G>A | |
| NM_001347902.2:c.-234+40975G>A | NP_001334831.1:n.-234+40975G>A |