Linked Data
ClinVar Variation Id:
162218
dbSNP Id:
rs727502799
ExAC:
3:69168405 GTT / G
gnomAD v2:
3-69168405-GTT-G
gnomAD v4:
3-69119254-GTT-G
PubMed:
PMID:25250574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119256_69119257del , CM000665.2:g.69119256_69119257del | GRCh38 |
| NC_000003.11:g.69168407_69168408del , CM000665.1:g.69168407_69168408del | GRCh37 |
| NC_000003.10:g.69251097_69251098del | NCBI36 |
| NG_041828.1:g.8340_8341del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420581.7:c.1099_1100del MANE Select | ENSP00000414670.3:p.Asn367GlnfsTer11 | |
| ENST00000420581.6:c.1099_1100del | ENSP00000414670.2:p.Asn367GlnfsTer11 | |
| ENST00000475434.1:c.1099_1100del | ENSP00000418645.1:p.Asn367GlnfsTer11 | |
| ENST00000489031.5:c.1099_1100del | ENSP00000417210.1:p.Asn367GlnfsTer11 | |
| NM_001304418.1:c.1099_1100del | NP_001291347.1:p.Asn367GlnfsTer11 | |
| NM_198271.4:c.1099_1100del | NP_938012.2:p.Asn367GlnfsTer11 | |
| NM_001304418.3:c.1099_1100del | NP_001291347.1:p.Asn367GlnfsTer11 | |
| NM_198271.5:c.1099_1100del MANE Select | NP_938012.2:p.Asn367GlnfsTer11 |