Linked Data
ClinVar Variation Id:
134936
ClinVar RCV Id:
RCV000121686
dbSNP Id:
rs587778568
gnomAD v4:
9-136505620-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505620G>A , CM000671.2:g.136505620G>A | GRCh38 |
| NC_000009.11:g.139400072G>A , CM000671.1:g.139400072G>A | GRCh37 |
| NC_000009.10:g.138519893G>A | NCBI36 |
| NG_007458.1:g.45167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2083C>T | ||
| ENST00000651671.1:c.4276C>T MANE Select | ENSP00000498587.1:p.His1426Tyr | |
| ENST00000679595.1:c.4276C>T | ENSP00000506241.1:p.His1426Tyr | |
| ENST00000680133.1:c.4162C>T | ENSP00000505319.1:p.His1388Tyr | |
| ENST00000680218.1:c.4156C>T | ENSP00000505339.1:p.His1386Tyr | |
| ENST00000680668.1:c.4162C>T | ENSP00000506336.1:p.His1388Tyr | |
| ENST00000680778.1:c.1873C>T | ENSP00000506033.1:p.His625Tyr | |
| ENST00000680924.1:c.*1676C>T | ENSP00000506031.1:n.*1676C>T | |
| ENST00000681135.1:c.*1885C>T | ENSP00000506636.1:n.*1885C>T | |
| ENST00000681298.1:n.1089C>T | ||
| ENST00000681454.1:c.*3512C>T | ENSP00000505763.1:n.*3512C>T | |
| ENST00000277541.6:c.4276C>T | ENSP00000277541.6:p.His1426Tyr | |
| NM_017617.3:c.4276C>T | NP_060087.3:p.His1426Tyr | |
| XM_011518717.1:c.3577C>T | XP_011517019.1:p.His1193Tyr | |
| NM_017617.5:c.4276C>T MANE Select | NP_060087.3:p.His1426Tyr | |
| XM_011518717.2:c.3553C>T | XP_011517019.2:p.His1185Tyr |