Linked Data
ClinVar Variation Id:
496218
dbSNP Id:
rs775828835
ExAC:
13:20763422 TG / T
gnomAD v2:
13-20763422-TG-T
gnomAD v4:
13-20189283-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189284del , CM000675.2:g.20189284del | GRCh38 |
| NC_000013.10:g.20763423del , CM000675.1:g.20763423del | GRCh37 |
| NC_000013.9:g.19661423del | NCBI36 |
| NG_008358.1:g.8692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.298del | ENSP00000372295.1:p.His100MetfsTer12 | |
| ENST00000382848.5:c.298del MANE Select | ENSP00000372299.4:p.His100MetfsTer12 | |
| ENST00000382844.1:c.298del | ENSP00000372295.1:p.His100MetfsTer12 | |
| ENST00000382848.4:c.298del | ENSP00000372299.4:p.His100MetfsTer12 | |
| NM_004004.5:c.298del | NP_003995.2:p.His100MetfsTer12 | |
| XM_011535049.1:c.298del | XP_011533351.1:p.His100MetfsTer12 | |
| XM_011535049.2:c.298del | XP_011533351.1:p.His100MetfsTer12 | |
| NM_004004.6:c.298del MANE Select | NP_003995.2:p.His100MetfsTer12 |