MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002585 (EAS)
Genomes Max Group AF
0.00026256 (EAS)
Exomes Max Group AF
0.0002127 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189071_20189074dup , CM000675.2:g.20189071_20189074dup | GRCh38 |
| NC_000013.10:g.20763210_20763213dup , CM000675.1:g.20763210_20763213dup | GRCh37 |
| NC_000013.9:g.19661210_19661213dup | NCBI36 |
| NG_008358.1:g.8902_8905dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.508_511dup | ENSP00000372295.1:p.Ala171GlufsTer? | |
| ENST00000382848.5:c.508_511dup MANE Select | ENSP00000372299.4:p.Ala171GlufsTer? | |
| ENST00000382844.1:c.508_511dup | ENSP00000372295.1:p.Ala171GlufsTer? | |
| ENST00000382848.4:c.508_511dup | ENSP00000372299.4:p.Ala171GlufsTer? | |
| NM_004004.5:c.508_511dup | NP_003995.2:p.Ala171GlufsTer? | |
| XM_011535049.1:c.508_511dup | XP_011533351.1:p.Ala171GlufsTer? | |
| XM_011535049.2:c.508_511dup | XP_011533351.1:p.Ala171GlufsTer? | |
| NM_004004.6:c.508_511dup MANE Select | NP_003995.2:p.Ala171GlufsTer? |