Linked Data
ClinVar Variation Id:
166583
dbSNP Id:
rs151244358
ExAC:
4:6302741 C / T
gnomAD v2:
4-6302741-C-T
gnomAD v3:
4-6301014-C-T
gnomAD v4:
4-6301014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301014C>T , CM000666.2:g.6301014C>T | GRCh38 |
| NC_000004.11:g.6302741C>T , CM000666.1:g.6302741C>T | GRCh37 |
| NC_000004.10:g.6353642C>T | NCBI36 |
| NG_011700.1:g.36165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1255C>T | ENSP00000507852.1:p.His419Tyr | |
| ENST00000683395.1:c.1196C>T | ||
| ENST00000684087.1:c.1219C>T | ENSP00000506978.1:p.His407Tyr | |
| ENST00000506362.2:c.970C>T | ENSP00000424103.2:p.His324Tyr | |
| ENST00000673642.1:c.878C>T | ENSP00000501242.1:p.Pro293Leu | |
| ENST00000673991.1:c.1255C>T | ENSP00000501033.1:p.His419Tyr | |
| ENST00000226760.5:c.1219C>T MANE Select | ENSP00000226760.1:p.His407Tyr | |
| ENST00000503569.5:c.1219C>T | ENSP00000423337.1:p.His407Tyr | |
| ENST00000507765.1:n.1404C>T | ||
| NM_001145853.1:c.1219C>T | NP_001139325.1:p.His407Tyr | |
| NM_006005.3:c.1219C>T MANE Select | NP_005996.2:p.His407Tyr | |
| XM_017008586.1:c.1228C>T | XP_016864075.1:p.His410Tyr |