Linked Data
ClinVar Variation Id:
310131
dbSNP Id:
rs370406973
ExAC:
12:6457114 G / A
gnomAD v2:
12-6457114-G-A
gnomAD v3:
12-6347948-G-A
gnomAD v4:
12-6347948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6347948G>A , CM000674.2:g.6347948G>A | GRCh38 |
| NC_000012.11:g.6457114G>A , CM000674.1:g.6457114G>A | GRCh37 |
| NC_000012.10:g.6327375G>A | NCBI36 |
| NG_011945.1:g.34410C>T | |
| NG_011945.2:g.34410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1935C>T MANE Select | ENSP00000228916.2:p.Ala645= | |
| ENST00000228916.6:c.1935C>T | ENSP00000228916.2:p.Ala645= | |
| ENST00000338748.9:c.*1006C>T | ENSP00000345028.5:n.*1006C>T | |
| ENST00000360168.7:c.2112C>T | ENSP00000353292.3:p.Ala704= | |
| ENST00000396966.6:c.*341C>T | ENSP00000380166.2:n.*341C>T | |
| ENST00000540037.5:c.1035C>T | ENSP00000440876.1:p.Ala345= | |
| ENST00000543768.1:c.2004C>T | ENSP00000438739.1:p.Ala668= | |
| NM_001038.5:c.1935C>T | NP_001029.1:p.Ala645= | |
| NM_001159575.1:c.2004C>T | NP_001153047.1:p.Ala668= | |
| NM_001159576.1:c.2112C>T | NP_001153048.1:p.Ala704= | |
| NM_001038.6:c.1935C>T MANE Select | NP_001029.1:p.Ala645= | |
| NM_001159576.2:c.2112C>T | NP_001153048.1:p.Ala704= | |
| NM_001159575.2:c.2004C>T | NP_001153047.1:p.Ala668= |