Linked Data
ClinVar Variation Id:
376117
ClinVar RCV Id:
RCV000428688
dbSNP Id:
rs1057519771
PubMed:
PMID:21562040
CIViC:
CA16602575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872201G>C , CM000671.2:g.130872201G>C | GRCh38 |
| NC_000009.11:g.133747588G>C , CM000671.1:g.133747588G>C | GRCh37 |
| NC_000009.10:g.132737409G>C | NCBI36 |
| NG_012034.1:g.163321G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.952G>C | ENSP00000361423.2:p.Val318Leu | |
| ENST00000318560.6:c.895G>C MANE Select | ENSP00000323315.5:p.Val299Leu | |
| ENST00000372348.7:c.952G>C | ENSP00000361423.2:p.Val318Leu | |
| ENST00000318560.5:c.895G>C | ENSP00000323315.5:p.Val299Leu | |
| ENST00000372348.6:c.952G>C | ENSP00000361423.2:p.Val318Leu | |
| NM_005157.5:c.895G>C | NP_005148.2:p.Val299Leu | |
| NM_007313.2:c.952G>C | NP_009297.2:p.Val318Leu | |
| NM_005157.6:c.895G>C MANE Select | NP_005148.2:p.Val299Leu | |
| NM_007313.3:c.952G>C | NP_009297.2:p.Val318Leu |