Linked Data
ClinVar Variation Id:
1441971
ClinVar RCV Id:
RCV001968065
dbSNP Id:
rs182614686
gnomAD v2:
3-150690331-G-T
gnomAD v4:
3-150972544-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972544G>T , CM000665.2:g.150972544G>T | GRCh38 |
| NC_000003.11:g.150690331G>T , CM000665.1:g.150690331G>T | GRCh37 |
| NC_000003.10:g.152173021G>T | NCBI36 |
| NG_009168.1:g.5456C>A , LRG_700:g.5456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.165C>A MANE Select | ENSP00000322280.1:p.Asp55Glu | |
| ENST00000468836.2:c.141C>A | ENSP00000419892.2:p.Asp47Glu | |
| ENST00000644099.1:c.6C>A | ENSP00000494762.1:p.Asp2Glu | |
| ENST00000645441.1:c.7C>A | ||
| ENST00000327047.5:c.165C>A | ENSP00000322280.1:p.Asp55Glu | |
| ENST00000328863.8:c.165C>A | ENSP00000329158.4:p.Asp55Glu | |
| ENST00000468836.1:c.-236C>A | ENSP00000419892.1:n.-236C>A | |
| ENST00000472224.1:n.171C>A | ||
| NM_001195794.1:c.165C>A , LRG_700t1:c.165C>A | NP_001182723.1:p.Asp55Glu | |
| NM_001256819.1:c.165C>A | NP_001243748.1:p.Asp55Glu | |
| NM_174878.2:c.165C>A | NP_777367.1:p.Asp55Glu | |
| NR_046380.2:n.456C>A | ||
| XR_924167.1:n.477C>A | ||
| NM_001256819.2:c.165C>A | NP_001243748.1:p.Asp55Glu | |
| NM_174878.3:c.165C>A MANE Select | NP_777367.1:p.Asp55Glu | |
| NR_046380.3:n.184C>A |