Linked Data
ClinVar Variation Id:
786152
ClinVar RCV Id:
RCV000968167
dbSNP Id:
rs74128570
ExAC:
10:27403528 A / G
gnomAD v2:
10-27403528-A-G
gnomAD v3:
10-27114599-A-G
gnomAD v4:
10-27114599-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27114599A>G , CM000672.2:g.27114599A>G | GRCh38 |
| NC_000010.10:g.27403528A>G , CM000672.1:g.27403528A>G | GRCh37 |
| NC_000010.9:g.27443534A>G | NCBI36 |
| NG_047122.1:g.45680T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376016.8:c.1929T>C MANE Select | ENSP00000365184.3:p.Val643= | |
| ENST00000326799.7:c.2100T>C | ENSP00000318480.3:p.Val700= | |
| ENST00000375972.7:c.2100T>C | ENSP00000365139.4:p.Val700= | |
| ENST00000376016.7:c.1929T>C | ENSP00000365184.3:p.Val643= | |
| ENST00000613434.4:c.1830T>C | ENSP00000481724.1:p.Val610= | |
| NM_001253866.1:c.1830T>C | NP_001240795.1:p.Val610= | |
| NM_014263.3:c.1929T>C | NP_055078.1:p.Val643= | |
| NM_139312.2:c.2100T>C | NP_647473.1:p.Val700= | |
| XM_011519300.1:c.2001T>C | XP_011517602.1:p.Val667= | |
| XM_011519300.3:c.2001T>C | XP_011517602.1:p.Val667= | |
| NM_014263.4:c.1929T>C MANE Select | NP_055078.1:p.Val643= | |
| NM_139312.3:c.2100T>C | NP_647473.1:p.Val700= | |
| NM_001253866.2:c.1830T>C | NP_001240795.1:p.Val610= |