Linked Data
dbSNP Id:
rs745539855
ExAC:
14:34269354 G / A
gnomAD v2:
14-34269354-G-A
gnomAD v3:
14-33800148-G-A
gnomAD v4:
14-33800148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800148G>A , CM000676.2:g.33800148G>A | GRCh38 |
| NC_000014.8:g.34269354G>A , CM000676.1:g.34269354G>A | GRCh37 |
| NC_000014.7:g.33339105G>A | NCBI36 |
| NG_013036.1:g.865896G>A | |
| NG_013036.2:g.865896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1841G>A MANE Select | ENSP00000348460.4:p.Arg614His | |
| ENST00000551634.6:c.1850G>A | ENSP00000448373.2:p.Arg617His | |
| ENST00000680362.1:c.1741G>A | ||
| ENST00000681323.1:c.793+2567G>A | ||
| ENST00000346562.6:c.1745G>A | ENSP00000319610.5:p.Arg582His | |
| ENST00000356141.8:c.1841G>A | ENSP00000348460.4:p.Arg614His | |
| ENST00000357798.9:c.1802G>A | ENSP00000350446.5:p.Arg601His | |
| ENST00000548645.5:c.1751G>A | ENSP00000448916.1:p.Arg584His | |
| ENST00000551492.5:c.1856G>A | ENSP00000450392.1:p.Arg619His | |
| ENST00000551634.5:c.1763G>A | ENSP00000448373.1:p.Arg588His | |
| NM_001164749.1:c.1841G>A | NP_001158221.1:p.Arg614His | |
| NM_001165893.1:c.1751G>A | NP_001159365.1:p.Arg584His | |
| NM_022123.2:c.1745G>A | NP_071406.1:p.Arg582His | |
| NM_173159.2:c.1802G>A | NP_775182.1:p.Arg601His | |
| XM_005267991.2:c.1862G>A | XP_005268048.1:p.Arg621His | |
| XM_005267992.2:c.1856G>A | XP_005268049.1:p.Arg619His | |
| XM_005267993.2:c.1802G>A | XP_005268050.1:p.Arg601His | |
| XM_011537067.1:c.1892G>A | XP_011535369.1:p.Arg631His | |
| XM_011537068.1:c.1883G>A | XP_011535370.1:p.Arg628His | |
| XM_011537069.1:c.1853G>A | XP_011535371.1:p.Arg618His | |
| XM_011537070.1:c.1796G>A | XP_011535372.1:p.Arg599His | |
| XM_011537071.1:c.1763G>A | XP_011535373.1:p.Arg588His | |
| XM_011537072.1:c.1742G>A | XP_011535374.1:p.Arg581His | |
| XM_011537073.1:c.1535G>A | XP_011535375.1:p.Arg512His | |
| XM_011537074.1:c.1535G>A | XP_011535376.1:p.Arg512His | |
| XM_005267991.3:c.1949G>A | XP_005268048.2:p.Arg650His | |
| XM_005267992.3:c.1943G>A | XP_005268049.2:p.Arg648His | |
| XM_011537067.2:c.1892G>A | XP_011535369.1:p.Arg631His | |
| XM_011537069.2:c.1940G>A | XP_011535371.2:p.Arg647His | |
| XM_011537070.2:c.1796G>A | XP_011535372.1:p.Arg599His | |
| XM_011537071.2:c.1850G>A | XP_011535373.2:p.Arg617His | |
| XM_011537072.2:c.1742G>A | XP_011535374.1:p.Arg581His | |
| XM_017021582.1:c.2000G>A | XP_016877071.1:p.Arg667His | |
| XM_017021583.1:c.1991G>A | XP_016877072.1:p.Arg664His | |
| XM_017021584.1:c.1910G>A | XP_016877073.1:p.Arg637His | |
| XM_017021585.1:c.1859G>A | XP_016877074.1:p.Arg620His | |
| XM_017021586.1:c.1535G>A | XP_016877075.1:p.Arg512His | |
| XM_017021587.1:c.1535G>A | XP_016877076.1:p.Arg512His | |
| XM_017021588.1:c.1535G>A | XP_016877077.1:p.Arg512His | |
| NM_001164749.2:c.1841G>A MANE Select | NP_001158221.1:p.Arg614His | |
| NM_001165893.2:c.1751G>A | NP_001159365.1:p.Arg584His | |
| NM_022123.3:c.1745G>A | NP_071406.1:p.Arg582His | |
| NM_173159.3:c.1802G>A | NP_775182.1:p.Arg601His | |
| NM_001394988.1:c.1796G>A | NP_001381917.1:p.Arg599His | |
| NM_001394989.1:c.1742G>A | NP_001381918.1:p.Arg581His |