Linked Data
ClinVar Variation Id:
2043683
ClinVar RCV Id:
RCV002913175
dbSNP Id:
rs72650603
ExAC:
15:78894335 G / A
gnomAD v2:
15-78894335-G-A
gnomAD v3:
15-78601993-G-A
gnomAD v4:
15-78601993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78601993G>A , CM000677.2:g.78601993G>A | GRCh38 |
| NC_000015.9:g.78894335G>A , CM000677.1:g.78894335G>A | GRCh37 |
| NC_000015.8:g.76681390G>A | NCBI36 |
| NG_016143.1:g.24303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.649C>T MANE Select | ENSP00000315602.5:p.His217Tyr | |
| ENST00000326828.5:c.649C>T | ENSP00000315602.5:p.His217Tyr | |
| ENST00000348639.7:c.649C>T | ENSP00000267951.4:p.His217Tyr | |
| ENST00000558903.1:n.356C>T | ||
| ENST00000559658.5:c.649C>T | ENSP00000452896.1:p.His217Tyr | |
| NM_000743.4:c.649C>T | NP_000734.2:p.His217Tyr | |
| NM_001166694.1:c.649C>T | NP_001160166.1:p.His217Tyr | |
| NR_046313.1:n.1150C>T | ||
| XM_006720382.1:c.448C>T | XP_006720445.1:p.His150Tyr | |
| XM_011521173.1:c.568C>T | XP_011519475.1:p.His190Tyr | |
| XM_006720382.3:c.448C>T | XP_006720445.1:p.His150Tyr | |
| NM_000743.5:c.649C>T MANE Select | NP_000734.2:p.His217Tyr | |
| NM_001166694.2:c.649C>T | NP_001160166.1:p.His217Tyr | |
| NR_046313.2:n.851C>T |