ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459415G>A , CM000668.2:g.49459415G>A | GRCh38 |
| NC_000006.11:g.49427128G>A , CM000668.1:g.49427128G>A | GRCh37 |
| NC_000006.10:g.49535087G>A | NCBI36 |
| NG_007100.1:g.8725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.52C>T MANE Select | ENSP00000274813.3:p.Gln18Ter | |
| ENST00000274813.3:c.52C>T | ENSP00000274813.3:p.Gln18Ter | |
| NM_000255.3:c.52C>T | NP_000246.2:p.Gln18Ter | |
| XM_005249143.2:c.52C>T | XP_005249200.1:p.Gln18Ter | |
| XM_005249143.3:c.52C>T | XP_005249200.1:p.Gln18Ter | |
| NM_000255.4:c.52C>T MANE Select | NP_000246.2:p.Gln18Ter |