Linked Data
dbSNP Id:
rs888088814
gnomAD v2:
1-153963498-C-A
gnomAD v3:
1-153991022-C-A
gnomAD v4:
1-153991022-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991022C>A , CM000663.2:g.153991022C>A | GRCh38 |
| NC_000001.10:g.153963498C>A , CM000663.1:g.153963498C>A | GRCh37 |
| NC_000001.9:g.152230122C>A | NCBI36 |
| NG_053102.2:g.5268C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.102C>A | ||
| ENST00000643794.1:c.115C>A | ENSP00000495765.1:p.Arg39= | |
| ENST00000651669.1:c.7-93C>A MANE Select | ENSP00000499044.1:n.7-93C>A | |
| ENST00000368567.4:c.7-93C>A | ENSP00000357555.4:n.7-93C>A | |
| ENST00000392558.4:c.7-93C>A | ENSP00000376341.4:n.7-93C>A | |
| ENST00000477151.1:n.149C>A | ||
| ENST00000493224.5:n.260C>A | ||
| NM_001030.4:c.7-93C>A | NP_001021.1:n.7-93C>A | |
| NM_001030.6:c.7-93C>A MANE Select | NP_001021.1:n.7-93C>A | |
| NM_001349946.1:c.-103C>A | NP_001336875.1:n.-103C>A | |
| NM_001349947.1:c.-103C>A | NP_001336876.1:n.-103C>A | |
| NM_001349946.2:c.-103C>A | NP_001336875.1:n.-103C>A | |
| NM_001349947.2:c.-103C>A | NP_001336876.1:n.-103C>A |