ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039291 (NFE)
Genomes Max Group AF
0.00024331 (NFE)
Exomes Max Group AF
0.00039635 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963153A>T , CM000666.2:g.42963153A>T | GRCh38 |
| NC_000004.11:g.42965170A>T , CM000666.1:g.42965170A>T | GRCh37 |
| NC_000004.10:g.42659927A>T | NCBI36 |
| NG_027718.1:g.74888A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+19A>T MANE Select | ENSP00000382670.2:n.627+19A>T | |
| ENST00000399770.2:c.627+19A>T | ENSP00000382670.2:n.627+19A>T | |
| NM_001080476.2:c.627+19A>T | NP_001073945.1:n.627+19A>T | |
| XM_011513691.1:c.264+19A>T | XP_011511993.1:n.264+19A>T | |
| NM_001080476.3:c.627+19A>T MANE Select | NP_001073945.1:n.627+19A>T |