Linked Data
ClinVar Variation Id:
2548793
ClinVar RCV Id:
RCV004315571
dbSNP Id:
rs760726484
gnomAD v2:
14-34269304-C-A
gnomAD v4:
14-33800098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800098C>A , CM000676.2:g.33800098C>A | GRCh38 |
| NC_000014.8:g.34269304C>A , CM000676.1:g.34269304C>A | GRCh37 |
| NC_000014.7:g.33339055C>A | NCBI36 |
| NG_013036.1:g.865846C>A | |
| NG_013036.2:g.865846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1791C>A MANE Select | ENSP00000348460.4:p.His597Gln | |
| ENST00000551634.6:c.1800C>A | ENSP00000448373.2:p.His600Gln | |
| ENST00000680362.1:c.1691C>A | ||
| ENST00000681323.1:c.793+2517C>A | ||
| ENST00000346562.6:c.1695C>A | ENSP00000319610.5:p.His565Gln | |
| ENST00000356141.8:c.1791C>A | ENSP00000348460.4:p.His597Gln | |
| ENST00000357798.9:c.1752C>A | ENSP00000350446.5:p.His584Gln | |
| ENST00000548645.5:c.1701C>A | ENSP00000448916.1:p.His567Gln | |
| ENST00000551492.5:c.1806C>A | ENSP00000450392.1:p.His602Gln | |
| ENST00000551634.5:c.1713C>A | ENSP00000448373.1:p.His571Gln | |
| NM_001164749.1:c.1791C>A | NP_001158221.1:p.His597Gln | |
| NM_001165893.1:c.1701C>A | NP_001159365.1:p.His567Gln | |
| NM_022123.2:c.1695C>A | NP_071406.1:p.His565Gln | |
| NM_173159.2:c.1752C>A | NP_775182.1:p.His584Gln | |
| XM_005267991.2:c.1812C>A | XP_005268048.1:p.His604Gln | |
| XM_005267992.2:c.1806C>A | XP_005268049.1:p.His602Gln | |
| XM_005267993.2:c.1752C>A | XP_005268050.1:p.His584Gln | |
| XM_011537067.1:c.1842C>A | XP_011535369.1:p.His614Gln | |
| XM_011537068.1:c.1833C>A | XP_011535370.1:p.His611Gln | |
| XM_011537069.1:c.1803C>A | XP_011535371.1:p.His601Gln | |
| XM_011537070.1:c.1746C>A | XP_011535372.1:p.His582Gln | |
| XM_011537071.1:c.1713C>A | XP_011535373.1:p.His571Gln | |
| XM_011537072.1:c.1692C>A | XP_011535374.1:p.His564Gln | |
| XM_011537073.1:c.1485C>A | XP_011535375.1:p.His495Gln | |
| XM_011537074.1:c.1485C>A | XP_011535376.1:p.His495Gln | |
| XM_005267991.3:c.1899C>A | XP_005268048.2:p.His633Gln | |
| XM_005267992.3:c.1893C>A | XP_005268049.2:p.His631Gln | |
| XM_011537067.2:c.1842C>A | XP_011535369.1:p.His614Gln | |
| XM_011537069.2:c.1890C>A | XP_011535371.2:p.His630Gln | |
| XM_011537070.2:c.1746C>A | XP_011535372.1:p.His582Gln | |
| XM_011537071.2:c.1800C>A | XP_011535373.2:p.His600Gln | |
| XM_011537072.2:c.1692C>A | XP_011535374.1:p.His564Gln | |
| XM_017021582.1:c.1950C>A | XP_016877071.1:p.His650Gln | |
| XM_017021583.1:c.1941C>A | XP_016877072.1:p.His647Gln | |
| XM_017021584.1:c.1860C>A | XP_016877073.1:p.His620Gln | |
| XM_017021585.1:c.1809C>A | XP_016877074.1:p.His603Gln | |
| XM_017021586.1:c.1485C>A | XP_016877075.1:p.His495Gln | |
| XM_017021587.1:c.1485C>A | XP_016877076.1:p.His495Gln | |
| XM_017021588.1:c.1485C>A | XP_016877077.1:p.His495Gln | |
| NM_001164749.2:c.1791C>A MANE Select | NP_001158221.1:p.His597Gln | |
| NM_001165893.2:c.1701C>A | NP_001159365.1:p.His567Gln | |
| NM_022123.3:c.1695C>A | NP_071406.1:p.His565Gln | |
| NM_173159.3:c.1752C>A | NP_775182.1:p.His584Gln | |
| NM_001394988.1:c.1746C>A | NP_001381917.1:p.His582Gln | |
| NM_001394989.1:c.1692C>A | NP_001381918.1:p.His564Gln |