Linked Data
ClinVar Variation Id:
496061
dbSNP Id:
rs104893830
COSMIC:
COSM97148
CIViC:
CA351753913
PCER:
P-CER:CA351753913/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146561G>T , CM000665.2:g.10146561G>T | GRCh38 |
| NC_000003.11:g.10188245G>T , CM000665.1:g.10188245G>T | GRCh37 |
| NC_000003.10:g.10163245G>T | NCBI36 |
| NG_008212.3:g.9927G>T , LRG_322:g.9927G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*65G>T | ENSP00000512434.1:n.*65G>T | |
| ENST00000696143.1:c.600-3226G>T | ENSP00000512435.1:n.600-3226G>T | |
| ENST00000696153.1:c.388G>T | ENSP00000512444.1:p.Val130Phe | |
| ENST00000256474.3:c.388G>T MANE Select | ENSP00000256474.3:p.Val130Phe | |
| ENST00000256474.2:c.388G>T | ENSP00000256474.2:p.Val130Phe | |
| ENST00000345392.2:c.341-3226G>T | ENSP00000344757.2:n.341-3226G>T | |
| ENST00000477538.1:n.524G>T | ||
| NM_000551.3:c.388G>T , LRG_322t1:c.388G>T | NP_000542.1:p.Val130Phe | |
| NM_198156.2:c.341-3226G>T | NP_937799.1:n.341-3226G>T | |
| XM_011534078.1:c.*65G>T | XP_011532380.1:n.*65G>T | |
| NM_001354723.1:c.*18-3226G>T | NP_001341652.1:n.*18-3226G>T | |
| NM_000551.4:c.388G>T MANE Select | NP_000542.1:p.Val130Phe | |
| NM_001354723.2:c.*18-3226G>T | NP_001341652.1:n.*18-3226G>T | |
| NM_198156.3:c.341-3226G>T | NP_937799.1:n.341-3226G>T |