Linked Data
ClinVar Variation Id:
376118
ClinVar RCV Id:
RCV000438506
dbSNP Id:
rs1057519772
CIViC:
CA16602576
PubMed:
PMID:21562040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872895A>G , CM000671.2:g.130872895A>G | GRCh38 |
| NC_000009.11:g.133748282A>G , CM000671.1:g.133748282A>G | GRCh37 |
| NC_000009.10:g.132738103A>G | NCBI36 |
| NG_012034.1:g.164015A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1000A>G | ENSP00000361423.2:p.Thr334Ala | |
| ENST00000318560.6:c.943A>G MANE Select | ENSP00000323315.5:p.Thr315Ala | |
| ENST00000372348.7:c.1000A>G | ENSP00000361423.2:p.Thr334Ala | |
| ENST00000318560.5:c.943A>G | ENSP00000323315.5:p.Thr315Ala | |
| ENST00000372348.6:c.1000A>G | ENSP00000361423.2:p.Thr334Ala | |
| NM_005157.5:c.943A>G | NP_005148.2:p.Thr315Ala | |
| NM_007313.2:c.1000A>G | NP_009297.2:p.Thr334Ala | |
| NM_005157.6:c.943A>G MANE Select | NP_005148.2:p.Thr315Ala | |
| NM_007313.3:c.1000A>G | NP_009297.2:p.Thr334Ala |