Linked Data
ClinVar Variation Id:
223219
dbSNP Id:
rs869025659
gnomAD v4:
3-10146636-G-A
COSMIC:
COSM18152
CIViC:
CA357026
PCER:
P-CER:CA357026/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146636G>A , CM000665.2:g.10146636G>A | GRCh38 |
| NC_000003.11:g.10188320G>A , CM000665.1:g.10188320G>A | GRCh37 |
| NC_000003.10:g.10163320G>A | NCBI36 |
| NG_008212.3:g.10002G>A , LRG_322:g.10002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*140G>A | ENSP00000512434.1:n.*140G>A | |
| ENST00000696143.1:c.600-3151G>A | ENSP00000512435.1:n.600-3151G>A | |
| ENST00000696153.1:c.463G>A | ENSP00000512444.1:p.Glu155Lys | |
| ENST00000256474.3:c.463G>A MANE Select | ENSP00000256474.3:p.Val155Met | |
| ENST00000256474.2:c.463G>A | ENSP00000256474.2:p.Val155Met | |
| ENST00000345392.2:c.341-3151G>A | ENSP00000344757.2:n.341-3151G>A | |
| ENST00000477538.1:n.599G>A | ||
| NM_000551.3:c.463G>A , LRG_322t1:c.463G>A | NP_000542.1:p.Val155Met | |
| NM_198156.2:c.341-3151G>A | NP_937799.1:n.341-3151G>A | |
| NM_001354723.1:c.*18-3151G>A | NP_001341652.1:n.*18-3151G>A | |
| NM_000551.4:c.463G>A MANE Select | NP_000542.1:p.Val155Met | |
| NM_001354723.2:c.*18-3151G>A | NP_001341652.1:n.*18-3151G>A | |
| NM_198156.3:c.341-3151G>A | NP_937799.1:n.341-3151G>A |