Linked Data
ClinVar Variation Id:
1955916
ClinVar RCV Id:
RCV002695750
dbSNP Id:
rs779280213
ExAC:
16:28949119 G / T
gnomAD v2:
16-28949119-G-T
gnomAD v4:
16-28937798-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28937798G>T , CM000678.2:g.28937798G>T | GRCh38 |
| NC_000016.9:g.28949119G>T , CM000678.1:g.28949119G>T | GRCh37 |
| NC_000016.8:g.28856620G>T | NCBI36 |
| NG_007275.1:g.10860G>T , LRG_35:g.10860G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.1459G>T | ENSP00000313419.4:p.Asp487Tyr | |
| ENST00000538922.8:c.1459G>T MANE Select | ENSP00000437940.2:p.Asp487Tyr | |
| ENST00000324662.7:c.1459G>T | ENSP00000313419.3:p.Asp487Tyr | |
| ENST00000538922.5:c.1459G>T | ENSP00000437940.1:p.Asp487Tyr | |
| ENST00000565089.5:n.1893G>T | ||
| ENST00000567368.1:n.569+118G>T | ||
| ENST00000567541.5:c.1459G>T | ENSP00000456201.1:p.Asp487Tyr | |
| ENST00000611258.4:c.*54G>T | ENSP00000481090.1:n.*54G>T | |
| NM_001178098.1:c.1459G>T | NP_001171569.1:p.Asp487Tyr | |
| NM_001770.5:c.1459G>T , LRG_35t1:c.1459G>T | NP_001761.3:p.Asp487Tyr | |
| XM_006721103.2:c.1192G>T | XP_006721166.1:p.Asp398Tyr | |
| XM_006721103.3:c.1192G>T | XP_006721166.1:p.Asp398Tyr | |
| XM_017023893.1:c.1192G>T | XP_016879382.1:p.Asp398Tyr | |
| NM_001178098.2:c.1459G>T | NP_001171569.1:p.Asp487Tyr | |
| NM_001770.6:c.1459G>T MANE Select | NP_001761.3:p.Asp487Tyr | |
| NM_001385732.1:c.1192G>T | NP_001372661.1:p.Asp398Tyr | |
| NR_169755.1:n.1801G>T |