Linked Data
dbSNP Id:
rs267607170
COSMIC:
COSM30288
CIViC:
CA351756149
PCER:
P-CER:CA351756149/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149814A>T , CM000665.2:g.10149814A>T | GRCh38 |
| NC_000003.11:g.10191498A>T , CM000665.1:g.10191498A>T | GRCh37 |
| NC_000003.10:g.10166498A>T | NCBI36 |
| NG_008212.3:g.13180A>T , LRG_322:g.13180A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*168A>T | ENSP00000512434.1:n.*168A>T | |
| ENST00000696143.1:c.627A>T | ENSP00000512435.1:n.627A>T | |
| ENST00000696153.1:c.602A>T | ENSP00000512444.1:p.Gln201Leu | |
| ENST00000256474.3:c.491A>T MANE Select | ENSP00000256474.3:p.Gln164Leu | |
| ENST00000256474.2:c.491A>T | ENSP00000256474.2:p.Gln164Leu | |
| ENST00000345392.2:c.368A>T | ENSP00000344757.2:p.Gln123Leu | |
| ENST00000477538.1:n.627A>T | ||
| NM_000551.3:c.491A>T , LRG_322t1:c.491A>T | NP_000542.1:p.Gln164Leu | |
| NM_198156.2:c.368A>T | NP_937799.1:p.Gln123Leu | |
| NM_001354723.1:c.*45A>T | NP_001341652.1:n.*45A>T | |
| NM_000551.4:c.491A>T MANE Select | NP_000542.1:p.Gln164Leu | |
| NM_001354723.2:c.*45A>T | NP_001341652.1:n.*45A>T | |
| NM_198156.3:c.368A>T | NP_937799.1:p.Gln123Leu |