Linked Data
ClinVar Variation Id:
528443
dbSNP Id:
rs369652475
ExAC:
5:127638683 G / A
gnomAD v2:
5-127638683-G-A
gnomAD v3:
5-128302991-G-A
gnomAD v4:
5-128302991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128302991G>A , CM000667.2:g.128302991G>A | GRCh38 |
| NC_000005.9:g.127638683G>A , CM000667.1:g.127638683G>A | GRCh37 |
| NC_000005.8:g.127666582G>A | NCBI36 |
| NG_008750.1:g.240053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2683C>T | ||
| ENST00000703785.1:n.2602C>T | ||
| ENST00000262464.9:c.5899C>T MANE Select | ENSP00000262464.4:p.His1967Tyr | |
| ENST00000262464.8:c.5899C>T | ENSP00000262464.4:p.His1967Tyr | |
| ENST00000508053.5:c.5899C>T | ENSP00000424571.1:p.His1967Tyr | |
| ENST00000619499.4:c.5896C>T | ENSP00000482132.1:p.His1966Tyr | |
| NM_001999.3:c.5899C>T | NP_001990.2:p.His1967Tyr | |
| XM_017009228.2:c.5746C>T | XP_016864717.1:p.His1916Tyr | |
| NM_001999.4:c.5899C>T MANE Select | NP_001990.2:p.His1967Tyr |