Linked Data
ClinVar Variation Id:
2950932
ClinVar RCV Id:
RCV003802194
dbSNP Id:
rs1690960053
gnomAD v4:
2-162268099-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162268099G>T , CM000664.2:g.162268099G>T | GRCh38 |
| NC_000002.11:g.163124609G>T , CM000664.1:g.163124609G>T | GRCh37 |
| NC_000002.10:g.162832855G>T | NCBI36 |
| NG_011495.1:g.55431C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*2392C>A | ENSP00000513228.1:n.*2392C>A | |
| ENST00000648433.1:c.2678C>A | ENSP00000496816.1:p.Thr893Asn | |
| ENST00000649426.1:n.39C>A | ||
| ENST00000649554.1:n.2405C>A | ||
| ENST00000649979.2:c.2795C>A MANE Select | ENSP00000497271.1:p.Thr932Asn | |
| ENST00000679938.1:c.2483C>A | ENSP00000505518.1:p.Thr828Asn | |
| ENST00000263642.2:c.2795C>A | ENSP00000263642.2:p.Thr932Asn | |
| NM_022168.3:c.2795C>A | NP_071451.2:p.Thr932Asn | |
| XM_011511628.1:c.2078C>A | XP_011509930.1:p.Thr693Asn | |
| NM_022168.4:c.2795C>A MANE Select | NP_071451.2:p.Thr932Asn |