Linked Data
ClinVar Variation Id:
13630
ClinVar RCV Id:
RCV000014600
dbSNP Id:
rs137853591
gnomAD v3:
16-30753434-C-T
gnomAD v4:
16-30753434-C-T
PubMed:
PMID:10905889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753434C>T , CM000678.2:g.30753434C>T | GRCh38 |
| NC_000016.9:g.30764755C>T , CM000678.1:g.30764755C>T | GRCh37 |
| NC_000016.8:g.30672256C>T | NCBI36 |
| NG_016616.1:g.10136C>T | |
| NG_016616.2:g.10136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563588.6:c.433C>T MANE Select | ENSP00000455607.1:p.His145Tyr | |
| ENST00000328273.11:c.433C>T | ENSP00000329968.7:p.His145Tyr | |
| ENST00000424889.7:c.433C>T | ENSP00000388571.3:p.His145Tyr | |
| ENST00000561712.1:c.107C>T | ||
| ENST00000563588.5:c.433C>T | ENSP00000455607.1:p.His145Tyr | |
| ENST00000563607.1:c.*105C>T | ENSP00000454641.1:n.*105C>T | |
| ENST00000563913.5:n.766C>T | ||
| ENST00000564838.5:n.807C>T | ||
| ENST00000565897.5:c.433C>T | ENSP00000457359.1:p.His145Tyr | |
| ENST00000565924.5:c.433C>T | ENSP00000455091.1:p.His145Tyr | |
| ENST00000569684.1:n.845C>T | ||
| NM_000294.2:c.433C>T | NP_000285.1:p.His145Tyr | |
| NM_001172432.1:c.433C>T | NP_001165903.1:p.His145Tyr | |
| NM_000294.3:c.433C>T MANE Select | NP_000285.1:p.His145Tyr | |
| NM_001172432.2:c.433C>T | NP_001165903.1:p.His145Tyr |