Linked Data
ClinVar Variation Id:
1216147
dbSNP Id:
rs778263925
ExAC:
2:26426967 G / T
gnomAD v2:
2-26426967-G-T
gnomAD v4:
2-26204098-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204098G>T , CM000664.2:g.26204098G>T | GRCh38 |
| NC_000002.11:g.26426967G>T , CM000664.1:g.26426967G>T | GRCh37 |
| NC_000002.10:g.26280471G>T | NCBI36 |
| NG_007121.1:g.45523C>A | |
| NG_007121.2:g.45524C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1184C>A MANE Select | ENSP00000370023.3:p.Thr395Asn | |
| ENST00000492433.2:c.1184C>A | ENSP00000438039.2:p.Thr395Asn | |
| ENST00000643057.1:c.*1075C>A | ENSP00000493761.1:n.*1075C>A | |
| ENST00000643063.1:c.*230C>A | ENSP00000495353.1:n.*230C>A | |
| ENST00000643233.1:c.*1075C>A | ENSP00000493880.1:n.*1075C>A | |
| ENST00000644428.1:c.1184C>A | ENSP00000495560.1:p.Thr395Asn | |
| ENST00000645274.1:c.1079C>A | ENSP00000493996.1:p.Thr360Asn | |
| ENST00000646031.1:c.543C>A | ||
| ENST00000646483.1:c.1050C>A | ENSP00000496185.1:n.1050C>A | |
| ENST00000380649.7:c.1184C>A | ENSP00000370023.3:p.Thr395Asn | |
| NM_000182.4:c.1184C>A | NP_000173.2:p.Thr395Asn | |
| NM_000182.5:c.1184C>A MANE Select | NP_000173.2:p.Thr395Asn |