Linked Data
ClinVar Variation Id:
13449
ClinVar RCV Id:
RCV000014391
dbSNP Id:
rs121918088
PubMed:
PMID:8309582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598631T>C , CM000680.2:g.31598631T>C | GRCh38 |
| NC_000018.9:g.29178594T>C , CM000680.1:g.29178594T>C | GRCh37 |
| NC_000018.8:g.27432592T>C | NCBI36 |
| NG_009490.1:g.11865T>C , LRG_416:g.11865T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.400T>C MANE Select | ENSP00000237014.4:p.Tyr134His | |
| ENST00000610404.5:c.304T>C | ENSP00000477599.2:p.Tyr102His | |
| ENST00000649620.1:c.400T>C | ENSP00000497927.1:p.Tyr134His | |
| ENST00000237014.7:c.400T>C | ENSP00000237014.3:p.Tyr134His | |
| ENST00000610404.4:c.514T>C | ENSP00000477599.1:p.Tyr172His | |
| ENST00000613781.1:c.376T>C | ENSP00000479174.1:p.Tyr126His | |
| NM_000371.3:c.400T>C , LRG_416t1:c.400T>C | NP_000362.1:p.Tyr134His | |
| NM_000371.4:c.400T>C MANE Select | NP_000362.1:p.Tyr134His |