Linked Data
ClinVar Variation Id:
197790
dbSNP Id:
rs34831194
ExAC:
1:155874156 G / A
gnomAD v2:
1-155874156-G-A
gnomAD v3:
1-155904365-G-A
gnomAD v4:
1-155904365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904365G>A , CM000663.2:g.155904365G>A | GRCh38 |
| NC_000001.10:g.155874156G>A , CM000663.1:g.155874156G>A | GRCh37 |
| NC_000001.9:g.154140780G>A | NCBI36 |
| NG_033885.1:g.12038C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461050.6:c.*104C>T | ENSP00000476319.1:n.*104C>T | |
| ENST00000539040.6:c.267C>T | ENSP00000441950.1:p.Asp89= | |
| ENST00000704061.1:c.*46C>T | ENSP00000515664.1:n.*46C>T | |
| ENST00000368323.8:c.375C>T MANE Select | ENSP00000357306.3:p.Asp125= | |
| ENST00000651853.1:c.378C>T | ENSP00000498685.1:p.Asp126= | |
| ENST00000368322.7:c.426C>T | ENSP00000357305.3:p.Asp142= | |
| ENST00000368323.7:c.375C>T | ENSP00000357306.3:p.Asp125= | |
| ENST00000461050.5:c.*104C>T | ENSP00000476319.1:n.*104C>T | |
| ENST00000539040.5:c.267C>T | ENSP00000441950.1:p.Asp89= | |
| ENST00000609492.1:c.375C>T | ENSP00000476612.1:p.Asp125= | |
| NM_001256820.1:c.267C>T | NP_001243749.1:p.Asp89= | |
| NM_001256821.1:c.426C>T | NP_001243750.1:p.Asp142= | |
| NM_006912.5:c.375C>T | NP_008843.1:p.Asp125= | |
| NM_001256820.2:c.267C>T | NP_001243749.1:p.Asp89= | |
| NM_001256821.2:c.426C>T | NP_001243750.1:p.Asp142= | |
| NM_006912.6:c.375C>T MANE Select | NP_008843.1:p.Asp125= |