Linked Data
ClinVar Variation Id:
5188
dbSNP Id:
rs746231039
ExAC:
2:131350599 CG / C
gnomAD v2:
2-131350599-CG-C
gnomAD v3:
2-130593026-CG-C
gnomAD v4:
2-130593026-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130593027del , CM000664.2:g.130593027del | GRCh38 |
| NC_000002.11:g.131350600del , CM000664.1:g.131350600del | GRCh37 |
| NC_000002.10:g.131067070del | NCBI36 |
| NG_008148.1:g.11483del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259216.6:c.522del MANE Select | ENSP00000259216.5:p.Ala175ArgfsTer? | |
| ENST00000259216.4:c.522del | ENSP00000259216.4:p.Ala175ArgfsTer? | |
| ENST00000615342.4:c.407del | ENSP00000480526.1:p.Ala136GlyfsTer? | |
| ENST00000621673.4:c.297del | ENSP00000480843.1:p.Ala100ArgfsTer? | |
| NM_001270420.1:c.407del | NP_001257349.1:p.Ala136GlyfsTer? | |
| NM_001270421.1:c.297del | NP_001257350.1:p.Ala100ArgfsTer? | |
| NM_032545.3:c.522del | NP_115934.1:p.Ala175ArgfsTer? | |
| NM_032545.4:c.522del MANE Select | NP_115934.1:p.Ala175ArgfsTer? | |
| NM_001270420.2:c.407del | NP_001257349.1:p.Ala136GlyfsTer? | |
| NM_001270421.2:c.297del | NP_001257350.1:p.Ala100ArgfsTer? |