Linked Data
dbSNP Id:
rs748482606
ExAC:
17:42988698 G / A
gnomAD v2:
17-42988698-G-A
gnomAD v4:
17-44911330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911330G>A , CM000679.2:g.44911330G>A | GRCh38 |
| NC_000017.10:g.42988698G>A , CM000679.1:g.42988698G>A | GRCh37 |
| NC_000017.9:g.40344224G>A | NCBI36 |
| NG_008401.1:g.9217C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1033C>T | ENSP00000253408.5:p.His345Tyr | |
| ENST00000435360.8:c.1033C>T | ENSP00000403962.1:p.His345Tyr | |
| ENST00000253408.10:c.1033C>T | ENSP00000253408.5:p.His345Tyr | |
| ENST00000435360.7:c.1033C>T | ENSP00000403962.1:p.His345Tyr | |
| ENST00000585543.6:n.186C>T | ||
| ENST00000586127.6:n.1562C>T | ||
| ENST00000586793.6:c.907-9C>T | ENSP00000468500.2:n.907-9C>T | |
| ENST00000587997.6:n.509C>T | ||
| ENST00000588735.3:c.1033C>T MANE Select | ENSP00000466598.2:p.His345Tyr | |
| ENST00000591327.2:n.2187C>T | ||
| ENST00000592320.6:c.619-9C>T | ENSP00000465320.1:n.619-9C>T | |
| ENST00000638281.1:c.1033C>T | ENSP00000491088.1:p.His345Tyr | |
| ENST00000638618.1:c.688C>T | ENSP00000492832.1:p.His230Tyr | |
| ENST00000639277.1:c.1033C>T | ENSP00000492432.1:p.His345Tyr | |
| ENST00000640552.1:n.1047C>T | ||
| ENST00000253408.9:c.1033C>T | ENSP00000253408.4:p.His345Tyr | |
| ENST00000376990.8:c.*432C>T | ENSP00000366189.4:n.*432C>T | |
| ENST00000435360.6:c.1033C>T | ENSP00000403962.1:p.His345Tyr | |
| ENST00000585543.5:n.186C>T | ||
| ENST00000586793.5:c.1033C>T | ENSP00000468500.1:p.His345Tyr | |
| ENST00000587997.5:c.509C>T | ||
| ENST00000588640.5:n.413C>T | ||
| ENST00000588735.1:c.83-3214C>T | ENSP00000466598.1:n.83-3214C>T | |
| ENST00000592320.5:c.619-9C>T | ENSP00000465320.1:n.619-9C>T | |
| NM_001131019.2:c.1033C>T | NP_001124491.1:p.His345Tyr | |
| NM_001242376.1:c.1033C>T | NP_001229305.1:p.His345Tyr | |
| NM_002055.4:c.1033C>T | NP_002046.1:p.His345Tyr | |
| NM_001363846.1:c.1033C>T | NP_001350775.1:p.His345Tyr | |
| XM_024450690.1:c.1237C>T | XP_024306458.1:p.His413Tyr | |
| XM_024450691.1:c.1237C>T | XP_024306459.1:p.His413Tyr | |
| XM_024450692.1:c.1237C>T | XP_024306460.1:p.His413Tyr | |
| XM_024450693.1:c.1237C>T | XP_024306461.1:p.His413Tyr | |
| NM_002055.5:c.1033C>T MANE Select | NP_002046.1:p.His345Tyr | |
| NM_001131019.3:c.1033C>T | NP_001124491.1:p.His345Tyr | |
| NM_001242376.2:c.1033C>T | NP_001229305.1:p.His345Tyr | |
| NM_001242376.3:c.1033C>T | NP_001229305.1:p.His345Tyr | |
| NM_001363846.2:c.1033C>T | NP_001350775.1:p.His345Tyr |