Linked Data
ClinVar Variation Id:
376714
ClinVar RCV Id:
RCV000431542
dbSNP Id:
rs1057520020
COSMIC:
COSM34195
PubMed:
PMID:18559588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834908C>T , CM000681.2:g.17834908C>T | GRCh38 |
| NC_000019.9:g.17945717C>T , CM000681.1:g.17945717C>T | GRCh37 |
| NC_000019.8:g.17806717C>T | NCBI36 |
| NG_007273.1:g.18084G>A , LRG_77:g.18084G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.*700G>A | ENSP00000513006.1:n.*700G>A | |
| ENST00000696967.1:n.1320G>A | ||
| ENST00000696970.1:n.798G>A | ||
| ENST00000458235.7:c.2143G>A MANE Select | ENSP00000391676.1:p.Val715Ile | |
| ENST00000458235.5:c.2143G>A | ENSP00000391676.1:p.Val715Ile | |
| ENST00000527031.5:n.2278+1819G>A | ||
| ENST00000527670.5:c.2143G>A | ENSP00000432511.1:p.Val715Ile | |
| ENST00000534444.1:c.2143G>A | ENSP00000436421.1:p.Val715Ile | |
| NM_000215.3:c.2143G>A , LRG_77t1:c.2143G>A | NP_000206.2:p.Val715Ile | |
| XM_005259896.2:c.2272G>A | XP_005259953.1:p.Val758Ile | |
| XM_006722745.2:c.2143G>A | XP_006722808.1:p.Val715Ile | |
| XM_011527990.1:c.2272G>A | XP_011526292.1:p.Val758Ile | |
| XR_430137.2:n.2282G>A | ||
| XM_005259896.3:c.2272G>A | XP_005259953.1:p.Val758Ile | |
| NM_000215.4:c.2143G>A MANE Select | NP_000206.2:p.Val715Ile |