Linked Data
ClinVar Variation Id:
774811
dbSNP Id:
rs141050112
ExAC:
2:28975017 C / T
gnomAD v2:
2-28975017-C-T
gnomAD v3:
2-28752151-C-T
gnomAD v4:
2-28752151-C-T
ERepo:
CA1589147/MONDO:0021060/128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28752151C>T , CM000664.2:g.28752151C>T | GRCh38 |
| NC_000002.11:g.28975017C>T , CM000664.1:g.28975017C>T | GRCh37 |
| NC_000002.10:g.28828521C>T | NCBI36 |
| NG_052878.1:g.5404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418910.2:c.27C>T | ENSP00000388056.2:p.Asp9= | |
| ENST00000420282.6:c.27C>T | ENSP00000398839.2:p.Asp9= | |
| ENST00000427786.2:c.-33+331C>T | ENSP00000394589.1:n.-33+331C>T | |
| ENST00000441461.6:c.27C>T | ENSP00000414918.2:p.Asp9= | |
| ENST00000455580.6:c.-33+331C>T | ENSP00000390715.2:n.-33+331C>T | |
| ENST00000703171.1:c.27C>T | ENSP00000515217.1:p.Asp9= | |
| ENST00000703172.1:c.-127C>T | ENSP00000515218.1:n.-127C>T | |
| ENST00000703173.1:c.27C>T | ENSP00000515219.1:p.Asp9= | |
| ENST00000703174.1:c.27C>T | ENSP00000515220.1:p.Asp9= | |
| ENST00000703175.1:n.38C>T | ||
| ENST00000395366.3:c.27C>T MANE Select | ENSP00000378769.2:p.Asp9= | |
| ENST00000296122.10:c.27C>T | ENSP00000296122.6:p.Asp9= | |
| ENST00000358506.6:c.27C>T | ENSP00000351298.2:p.Asp9= | |
| ENST00000395366.2:c.27C>T | ENSP00000378769.2:p.Asp9= | |
| ENST00000420282.5:c.27C>T | ENSP00000398839.1:p.Asp9= | |
| ENST00000427786.1:c.-33+331C>T | ENSP00000394589.1:n.-33+331C>T | |
| ENST00000441461.5:c.27C>T | ENSP00000414918.1:p.Asp9= | |
| ENST00000455580.5:c.-33+331C>T | ENSP00000390715.1:n.-33+331C>T | |
| ENST00000464273.1:n.141C>T | ||
| NM_002709.2:c.27C>T | NP_002700.1:p.Asp9= | |
| NM_206876.1:c.27C>T | NP_996759.1:p.Asp9= | |
| NM_002709.3:c.27C>T MANE Select | NP_002700.1:p.Asp9= | |
| NM_206876.2:c.27C>T | NP_996759.1:p.Asp9= |