Linked Data
ClinVar Variation Id:
376166
dbSNP Id:
rs1057519802
COSMIC:
COSM29145
PubMed:
PMID:18971950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150061765A>C , CM000667.2:g.150061765A>C | GRCh38 |
| NC_000005.9:g.149441328A>C , CM000667.1:g.149441328A>C | GRCh37 |
| NC_000005.8:g.149421521A>C | NCBI36 |
| NG_012303.1:g.56608T>G | |
| NG_012303.2:g.56608T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675795.1:c.1711T>G MANE Select | ENSP00000501699.1:p.Tyr571Asp | |
| ENST00000286301.7:c.1711T>G | ENSP00000286301.3:p.Tyr571Asp | |
| ENST00000504875.5:c.1711T>G | ENSP00000422212.1:p.Tyr571Asp | |
| ENST00000513609.1:n.241T>G | ||
| ENST00000515239.5:n.241T>G | ||
| NM_001288705.1:c.1711T>G | NP_001275634.1:p.Tyr571Asp | |
| NM_005211.3:c.1711T>G | NP_005202.2:p.Tyr571Asp | |
| NR_109969.1:n.1924T>G | ||
| NM_001288705.2:c.1711T>G | NP_001275634.1:p.Tyr571Asp | |
| NM_001349736.1:c.1711T>G | NP_001336665.1:p.Tyr571Asp | |
| NM_001288705.3:c.1711T>G MANE Select | NP_001275634.1:p.Tyr571Asp | |
| NM_001375320.1:c.1711T>G | NP_001362249.1:p.Tyr571Asp | |
| NM_001375321.1:c.1267T>G | NP_001362250.1:p.Tyr423Asp | |
| NR_164679.1:n.1767T>G | ||
| NM_001349736.2:c.1711T>G | NP_001336665.1:p.Tyr571Asp | |
| NM_005211.4:c.1711T>G | NP_005202.2:p.Tyr571Asp | |
| NR_109969.2:n.1838T>G |