Linked Data
dbSNP Id:
rs767834030
ExAC:
14:34269397 G / A
gnomAD v2:
14-34269397-G-A
gnomAD v4:
14-33800191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800191G>A , CM000676.2:g.33800191G>A | GRCh38 |
| NC_000014.8:g.34269397G>A , CM000676.1:g.34269397G>A | GRCh37 |
| NC_000014.7:g.33339148G>A | NCBI36 |
| NG_013036.1:g.865939G>A | |
| NG_013036.2:g.865939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1884G>A MANE Select | ENSP00000348460.4:p.Ala628= | |
| ENST00000551634.6:c.1893G>A | ENSP00000448373.2:p.Ala631= | |
| ENST00000680362.1:c.1784G>A | ||
| ENST00000681323.1:c.793+2610G>A | ||
| ENST00000346562.6:c.1788G>A | ENSP00000319610.5:p.Ala596= | |
| ENST00000356141.8:c.1884G>A | ENSP00000348460.4:p.Ala628= | |
| ENST00000357798.9:c.1845G>A | ENSP00000350446.5:p.Ala615= | |
| ENST00000548645.5:c.1794G>A | ENSP00000448916.1:p.Ala598= | |
| ENST00000551492.5:c.1899G>A | ENSP00000450392.1:p.Ala633= | |
| ENST00000551634.5:c.1806G>A | ENSP00000448373.1:p.Ala602= | |
| NM_001164749.1:c.1884G>A | NP_001158221.1:p.Ala628= | |
| NM_001165893.1:c.1794G>A | NP_001159365.1:p.Ala598= | |
| NM_022123.2:c.1788G>A | NP_071406.1:p.Ala596= | |
| NM_173159.2:c.1845G>A | NP_775182.1:p.Ala615= | |
| XM_005267991.2:c.1905G>A | XP_005268048.1:p.Ala635= | |
| XM_005267992.2:c.1899G>A | XP_005268049.1:p.Ala633= | |
| XM_005267993.2:c.1845G>A | XP_005268050.1:p.Ala615= | |
| XM_011537067.1:c.1935G>A | XP_011535369.1:p.Ala645= | |
| XM_011537068.1:c.1926G>A | XP_011535370.1:p.Ala642= | |
| XM_011537069.1:c.1896G>A | XP_011535371.1:p.Ala632= | |
| XM_011537070.1:c.1839G>A | XP_011535372.1:p.Ala613= | |
| XM_011537071.1:c.1806G>A | XP_011535373.1:p.Ala602= | |
| XM_011537072.1:c.1785G>A | XP_011535374.1:p.Ala595= | |
| XM_011537073.1:c.1578G>A | XP_011535375.1:p.Ala526= | |
| XM_011537074.1:c.1578G>A | XP_011535376.1:p.Ala526= | |
| XM_005267991.3:c.1992G>A | XP_005268048.2:p.Ala664= | |
| XM_005267992.3:c.1986G>A | XP_005268049.2:p.Ala662= | |
| XM_011537067.2:c.1935G>A | XP_011535369.1:p.Ala645= | |
| XM_011537069.2:c.1983G>A | XP_011535371.2:p.Ala661= | |
| XM_011537070.2:c.1839G>A | XP_011535372.1:p.Ala613= | |
| XM_011537071.2:c.1893G>A | XP_011535373.2:p.Ala631= | |
| XM_011537072.2:c.1785G>A | XP_011535374.1:p.Ala595= | |
| XM_017021582.1:c.2043G>A | XP_016877071.1:p.Ala681= | |
| XM_017021583.1:c.2034G>A | XP_016877072.1:p.Ala678= | |
| XM_017021584.1:c.1953G>A | XP_016877073.1:p.Ala651= | |
| XM_017021585.1:c.1902G>A | XP_016877074.1:p.Ala634= | |
| XM_017021586.1:c.1578G>A | XP_016877075.1:p.Ala526= | |
| XM_017021587.1:c.1578G>A | XP_016877076.1:p.Ala526= | |
| XM_017021588.1:c.1578G>A | XP_016877077.1:p.Ala526= | |
| NM_001164749.2:c.1884G>A MANE Select | NP_001158221.1:p.Ala628= | |
| NM_001165893.2:c.1794G>A | NP_001159365.1:p.Ala598= | |
| NM_022123.3:c.1788G>A | NP_071406.1:p.Ala596= | |
| NM_173159.3:c.1845G>A | NP_775182.1:p.Ala615= | |
| NM_001394988.1:c.1839G>A | NP_001381917.1:p.Ala613= | |
| NM_001394989.1:c.1785G>A | NP_001381918.1:p.Ala595= |