Linked Data
dbSNP Id:
rs1252473811
COSMIC:
COSM17805
MyVariant Identifiers:
chr3:g.10191478T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149794T>A , CM000665.2:g.10149794T>A | GRCh38 |
| NC_000003.11:g.10191478T>A , CM000665.1:g.10191478T>A | GRCh37 |
| NC_000003.10:g.10166478T>A | NCBI36 |
| NG_008212.3:g.13160T>A , LRG_322:g.13160T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*148T>A | ENSP00000512434.1:n.*148T>A | |
| ENST00000696143.1:c.607T>A | ENSP00000512435.1:n.607T>A | |
| ENST00000696153.1:c.582T>A | ENSP00000512444.1:p.Thr194= | |
| ENST00000256474.3:c.471T>A MANE Select | ENSP00000256474.3:p.Thr157= | |
| ENST00000256474.2:c.471T>A | ENSP00000256474.2:p.Thr157= | |
| ENST00000345392.2:c.348T>A | ENSP00000344757.2:p.Thr116= | |
| ENST00000477538.1:n.607T>A | ||
| NM_000551.3:c.471T>A , LRG_322t1:c.471T>A | NP_000542.1:p.Thr157= | |
| NM_198156.2:c.348T>A | NP_937799.1:p.Thr116= | |
| NM_001354723.1:c.*25T>A | NP_001341652.1:n.*25T>A | |
| NM_000551.4:c.471T>A MANE Select | NP_000542.1:p.Thr157= | |
| NM_001354723.2:c.*25T>A | NP_001341652.1:n.*25T>A | |
| NM_198156.3:c.348T>A | NP_937799.1:p.Thr116= |