Linked Data
ClinVar Variation Id:
219157
ClinVar RCV Id:
RCV000203510
dbSNP Id:
rs864321641
CIViC:
CA279917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149802A>T , CM000665.2:g.10149802A>T | GRCh38 |
| NC_000003.11:g.10191486A>T , CM000665.1:g.10191486A>T | GRCh37 |
| NC_000003.10:g.10166486A>T | NCBI36 |
| NG_008212.3:g.13168A>T , LRG_322:g.13168A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*156A>T | ENSP00000512434.1:n.*156A>T | |
| ENST00000696143.1:c.615A>T | ENSP00000512435.1:n.615A>T | |
| ENST00000696153.1:c.590A>T | ENSP00000512444.1:p.Glu197Val | |
| ENST00000256474.3:c.479A>T MANE Select | ENSP00000256474.3:p.Glu160Val | |
| ENST00000256474.2:c.479A>T | ENSP00000256474.2:p.Glu160Val | |
| ENST00000345392.2:c.356A>T | ENSP00000344757.2:p.Glu119Val | |
| ENST00000477538.1:n.615A>T | ||
| NM_000551.3:c.479A>T , LRG_322t1:c.479A>T | NP_000542.1:p.Glu160Val | |
| NM_198156.2:c.356A>T | NP_937799.1:p.Glu119Val | |
| NM_001354723.1:c.*33A>T | NP_001341652.1:n.*33A>T | |
| NM_000551.4:c.479A>T MANE Select | NP_000542.1:p.Glu160Val | |
| NM_001354723.2:c.*33A>T | NP_001341652.1:n.*33A>T | |
| NM_198156.3:c.356A>T | NP_937799.1:p.Glu119Val |