ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006235 (NFE)
Genomes Max Group AF
0.00076832 (NFE)
Exomes Max Group AF
0.00060502 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142742392G>A , CM000670.2:g.142742392G>A | GRCh38 |
| NC_000008.10:g.143823810G>A , CM000670.1:g.143823810G>A | GRCh37 |
| NC_000008.9:g.143820812G>A | NCBI36 |
| NG_011494.1:g.5020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.-7C>T MANE Select | ENSP00000246515.1:n.-7C>T | |
| ENST00000246515.1:c.-7C>T | ENSP00000246515.1:n.-7C>T | |
| NM_020427.2:c.-7C>T | NP_065160.1:n.-7C>T | |
| NM_020427.3:c.-7C>T MANE Select | NP_065160.1:n.-7C>T |