Linked Data
ClinVar Variation Id:
2402378
ClinVar RCV Id:
RCV004240985
dbSNP Id:
rs139150092
ExAC:
16:4812306 G / A
gnomAD v2:
16-4812306-G-A
gnomAD v3:
16-4762305-G-A
gnomAD v4:
16-4762305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762305G>A , CM000678.2:g.4762305G>A | GRCh38 |
| NC_000016.9:g.4812306G>A , CM000678.1:g.4812306G>A | GRCh37 |
| NC_000016.8:g.4752307G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.629C>T MANE Select | ENSP00000219478.5:p.Ala210Val | |
| ENST00000219478.10:c.629C>T | ENSP00000219478.5:p.Ala210Val | |
| ENST00000545009.1:c.629C>T | ENSP00000445714.1:p.Ala210Val | |
| ENST00000589422.1:c.*157C>T | ENSP00000466375.1:n.*157C>T | |
| NM_001303450.1:c.629C>T | NP_001290379.1:p.Ala210Val | |
| NM_021646.2:c.629C>T | NP_067678.1:p.Ala210Val | |
| XM_005255243.2:c.278C>T | XP_005255300.1:p.Ala93Val | |
| XM_011522453.1:c.629C>T | XP_011520755.1:p.Ala210Val | |
| XM_011522454.1:c.5C>T | XP_011520756.1:p.Ala2Val | |
| NM_021646.3:c.629C>T | NP_067678.1:p.Ala210Val | |
| XM_005255243.4:c.278C>T | XP_005255300.1:p.Ala93Val | |
| XM_011522453.2:c.629C>T | XP_011520755.1:p.Ala210Val | |
| XM_011522454.3:c.5C>T | XP_011520756.1:p.Ala2Val | |
| XM_017023121.2:c.5C>T | XP_016878610.1:p.Ala2Val | |
| NM_001303450.2:c.629C>T | NP_001290379.1:p.Ala210Val | |
| NM_021646.4:c.629C>T MANE Select | NP_067678.1:p.Ala210Val |