Linked Data
ClinVar Variation Id:
161749
ClinVar RCV Id:
RCV000149285
dbSNP Id:
rs193920922
COSMIC:
COSM1180143
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95737907G>A , CM000674.2:g.95737907G>A | GRCh38 |
| NC_000012.11:g.96131685G>A , CM000674.1:g.96131685G>A | GRCh37 |
| NC_000012.10:g.94655816G>A | NCBI36 |
| NG_051252.1:g.58300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343702.9:c.823C>T MANE Select | ENSP00000340998.4:p.His275Tyr | |
| ENST00000674345.1:c.823C>T | ENSP00000501488.1:p.His275Tyr | |
| ENST00000343702.8:c.823C>T | ENSP00000340998.4:p.His275Tyr | |
| ENST00000344911.8:c.712C>T | ENSP00000339436.4:p.His238Tyr | |
| ENST00000538383.5:c.712C>T | ENSP00000444432.1:p.His238Tyr | |
| ENST00000552603.1:n.338C>T | ||
| ENST00000553059.1:c.823C>T | ENSP00000447292.1:p.His275Tyr | |
| NM_021229.3:c.823C>T | NP_067052.2:p.His275Tyr | |
| XM_011538629.1:c.823C>T | XP_011536931.1:p.His275Tyr | |
| NM_001329700.1:c.823C>T | NP_001316629.1:p.His275Tyr | |
| NM_001329701.1:c.712C>T | NP_001316630.1:p.His238Tyr | |
| NM_001329702.1:c.712C>T | NP_001316631.1:p.His238Tyr | |
| NM_021229.4:c.823C>T MANE Select | NP_067052.2:p.His275Tyr | |
| NM_001329700.2:c.823C>T | NP_001316629.1:p.His275Tyr | |
| NM_001329701.2:c.712C>T | NP_001316630.1:p.His238Tyr | |
| NM_001329702.2:c.712C>T | NP_001316631.1:p.His238Tyr |