Linked Data
ClinVar Variation Id:
2147316
ClinVar RCV Id:
RCV003060836
dbSNP Id:
rs752252706
ExAC:
16:3860704 C / A
gnomAD v2:
16-3860704-C-A
gnomAD v4:
16-3810703-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810703C>A , CM000678.2:g.3810703C>A | GRCh38 |
| NC_000016.9:g.3860704C>A , CM000678.1:g.3860704C>A | GRCh37 |
| NC_000016.8:g.3800705C>A | NCBI36 |
| NG_009873.1:g.74418G>T | |
| NG_009873.2:g.75011G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.875G>T MANE Select | ENSP00000262367.5:p.Gly292Val | |
| ENST00000262367.9:c.875G>T | ENSP00000262367.5:p.Gly292Val | |
| ENST00000382070.7:c.875G>T | ENSP00000371502.3:p.Gly292Val | |
| NM_001079846.1:c.875G>T | NP_001073315.1:p.Gly292Val | |
| NM_004380.2:c.875G>T | NP_004371.2:p.Gly292Val | |
| XM_005255124.3:c.875G>T | XP_005255181.1:p.Gly292Val | |
| XM_005255125.3:c.875G>T | XP_005255182.1:p.Gly292Val | |
| XM_006720848.2:c.875G>T | XP_006720911.1:p.Gly292Val | |
| XM_011522380.1:c.821G>T | XP_011520682.1:p.Gly274Val | |
| XM_011522381.1:c.122G>T | XP_011520683.1:p.Gly41Val | |
| XM_011522382.1:c.875G>T | XP_011520684.1:p.Gly292Val | |
| XM_005255124.4:c.875G>T | XP_005255181.1:p.Gly292Val | |
| XM_005255125.4:c.875G>T | XP_005255182.1:p.Gly292Val | |
| XM_006720848.3:c.875G>T | XP_006720911.1:p.Gly292Val | |
| XM_011522381.2:c.122G>T | XP_011520683.1:p.Gly41Val | |
| XM_011522382.3:c.875G>T | XP_011520684.1:p.Gly292Val | |
| XM_017022944.1:c.875G>T | XP_016878433.1:p.Gly292Val | |
| NM_004380.3:c.875G>T MANE Select | NP_004371.2:p.Gly292Val |