Linked Data
ClinVar Variation Id:
1777205
dbSNP Id:
rs1248100757
gnomAD v2:
9-107593969-T-A
gnomAD v3:
9-104831688-T-A
gnomAD v4:
9-104831688-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104831688T>A , CM000671.2:g.104831688T>A | GRCh38 |
| NC_000009.11:g.107593969T>A , CM000671.1:g.107593969T>A | GRCh37 |
| NC_000009.10:g.106633790T>A | NCBI36 |
| NG_007981.1:g.101468A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.1649A>T MANE Select | ENSP00000363868.3:p.His550Leu | |
| ENST00000678995.1:c.1649A>T | ENSP00000504612.1:p.His550Leu | |
| ENST00000374736.7:c.1649A>T | ENSP00000363868.3:p.His550Leu | |
| NM_005502.3:c.1649A>T | NP_005493.2:p.His550Leu | |
| XM_005251773.1:c.1649A>T | XP_005251830.1:p.His550Leu | |
| XM_005251776.1:c.1469A>T | XP_005251833.1:p.His490Leu | |
| XM_011518339.1:c.1724A>T | XP_011516641.1:p.His575Leu | |
| XM_011518340.1:c.1724A>T | XP_011516642.1:p.His575Leu | |
| XM_011518341.1:c.1724A>T | XP_011516643.1:p.His575Leu | |
| XM_011518342.1:c.1286A>T | XP_011516644.1:p.His429Leu | |
| XM_011518343.1:c.1724A>T | XP_011516645.1:p.His575Leu | |
| XM_011518344.1:c.1724A>T | XP_011516646.1:p.His575Leu | |
| XM_005251773.3:c.1649A>T | XP_005251830.1:p.His550Leu | |
| XM_005251776.3:c.1469A>T | XP_005251833.1:p.His490Leu | |
| XM_011518339.3:c.1724A>T | XP_011516641.1:p.His575Leu | |
| XM_011518340.3:c.1724A>T | XP_011516642.1:p.His575Leu | |
| XM_011518341.3:c.1724A>T | XP_011516643.1:p.His575Leu | |
| XM_011518342.3:c.1286A>T | XP_011516644.1:p.His429Leu | |
| XM_011518344.2:c.1724A>T | XP_011516646.1:p.His575Leu | |
| XM_017014378.2:c.1724A>T | XP_016869867.1:p.His575Leu | |
| XM_017014379.2:c.1724A>T | XP_016869868.1:p.His575Leu | |
| XM_017014380.2:c.1724A>T | XP_016869869.1:p.His575Leu | |
| XM_017014381.2:c.1724A>T | XP_016869870.1:p.His575Leu | |
| XM_017014382.2:c.1586A>T | XP_016869871.1:p.His529Leu | |
| XR_001746223.1:n.2037A>T | ||
| NM_005502.4:c.1649A>T MANE Select | NP_005493.2:p.His550Leu |