Linked Data
ClinVar Variation Id:
756886
ClinVar RCV Id:
RCV001483814
dbSNP Id:
rs1575932584
MyVariant Identifiers:
chr3:g.10191598C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149914C>T , CM000665.2:g.10149914C>T | GRCh38 |
| NC_000003.11:g.10191598C>T , CM000665.1:g.10191598C>T | GRCh37 |
| NC_000003.10:g.10166598C>T | NCBI36 |
| NG_008212.3:g.13280C>T , LRG_322:g.13280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*268C>T | ENSP00000512434.1:n.*268C>T | |
| ENST00000696143.1:c.727C>T | ENSP00000512435.1:n.727C>T | |
| ENST00000696153.1:c.702C>T | ENSP00000512444.1:p.Asp234= | |
| ENST00000256474.3:c.591C>T MANE Select | ENSP00000256474.3:p.Asp197= | |
| ENST00000256474.2:c.591C>T | ENSP00000256474.2:p.Asp197= | |
| ENST00000345392.2:c.468C>T | ENSP00000344757.2:p.Asp156= | |
| ENST00000477538.1:n.727C>T | ||
| NM_000551.3:c.591C>T , LRG_322t1:c.591C>T | NP_000542.1:p.Asp197= | |
| NM_198156.2:c.468C>T | NP_937799.1:p.Asp156= | |
| NM_001354723.1:c.*145C>T | NP_001341652.1:n.*145C>T | |
| NM_000551.4:c.591C>T MANE Select | NP_000542.1:p.Asp197= | |
| NM_001354723.2:c.*145C>T | NP_001341652.1:n.*145C>T | |
| NM_198156.3:c.468C>T | NP_937799.1:p.Asp156= |