Linked Data
ClinVar Variation Id:
735174
ClinVar RCV Id:
RCV000910682
dbSNP Id:
rs201277410
ExAC:
14:34269630 G / A
gnomAD v2:
14-34269630-G-A
gnomAD v3:
14-33800424-G-A
gnomAD v4:
14-33800424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800424G>A , CM000676.2:g.33800424G>A | GRCh38 |
| NC_000014.8:g.34269630G>A , CM000676.1:g.34269630G>A | GRCh37 |
| NC_000014.7:g.33339381G>A | NCBI36 |
| NG_013036.1:g.866172G>A | |
| NG_013036.2:g.866172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2117G>A MANE Select | ENSP00000348460.4:p.Gly706Glu | |
| ENST00000551634.6:c.2126G>A | ENSP00000448373.2:p.Gly709Glu | |
| ENST00000680362.1:c.2017G>A | ||
| ENST00000681323.1:c.793+2843G>A | ||
| ENST00000346562.6:c.2021G>A | ENSP00000319610.5:p.Gly674Glu | |
| ENST00000356141.8:c.2117G>A | ENSP00000348460.4:p.Gly706Glu | |
| ENST00000357798.9:c.2078G>A | ENSP00000350446.5:p.Gly693Glu | |
| ENST00000548645.5:c.2027G>A | ENSP00000448916.1:p.Gly676Glu | |
| ENST00000551492.5:c.2132G>A | ENSP00000450392.1:p.Gly711Glu | |
| ENST00000551634.5:c.2039G>A | ENSP00000448373.1:p.Gly680Glu | |
| NM_001164749.1:c.2117G>A | NP_001158221.1:p.Gly706Glu | |
| NM_001165893.1:c.2027G>A | NP_001159365.1:p.Gly676Glu | |
| NM_022123.2:c.2021G>A | NP_071406.1:p.Gly674Glu | |
| NM_173159.2:c.2078G>A | NP_775182.1:p.Gly693Glu | |
| XM_005267991.2:c.2138G>A | XP_005268048.1:p.Gly713Glu | |
| XM_005267992.2:c.2132G>A | XP_005268049.1:p.Gly711Glu | |
| XM_005267993.2:c.2078G>A | XP_005268050.1:p.Gly693Glu | |
| XM_011537067.1:c.2168G>A | XP_011535369.1:p.Gly723Glu | |
| XM_011537068.1:c.2159G>A | XP_011535370.1:p.Gly720Glu | |
| XM_011537069.1:c.2129G>A | XP_011535371.1:p.Gly710Glu | |
| XM_011537070.1:c.2072G>A | XP_011535372.1:p.Gly691Glu | |
| XM_011537071.1:c.2039G>A | XP_011535373.1:p.Gly680Glu | |
| XM_011537072.1:c.2018G>A | XP_011535374.1:p.Gly673Glu | |
| XM_011537073.1:c.1811G>A | XP_011535375.1:p.Gly604Glu | |
| XM_011537074.1:c.1811G>A | XP_011535376.1:p.Gly604Glu | |
| XM_005267991.3:c.2225G>A | XP_005268048.2:p.Gly742Glu | |
| XM_005267992.3:c.2219G>A | XP_005268049.2:p.Gly740Glu | |
| XM_011537067.2:c.2168G>A | XP_011535369.1:p.Gly723Glu | |
| XM_011537069.2:c.2216G>A | XP_011535371.2:p.Gly739Glu | |
| XM_011537070.2:c.2072G>A | XP_011535372.1:p.Gly691Glu | |
| XM_011537071.2:c.2126G>A | XP_011535373.2:p.Gly709Glu | |
| XM_011537072.2:c.2018G>A | XP_011535374.1:p.Gly673Glu | |
| XM_017021582.1:c.2276G>A | XP_016877071.1:p.Gly759Glu | |
| XM_017021583.1:c.2267G>A | XP_016877072.1:p.Gly756Glu | |
| XM_017021584.1:c.2186G>A | XP_016877073.1:p.Gly729Glu | |
| XM_017021585.1:c.2135G>A | XP_016877074.1:p.Gly712Glu | |
| XM_017021586.1:c.1811G>A | XP_016877075.1:p.Gly604Glu | |
| XM_017021587.1:c.1811G>A | XP_016877076.1:p.Gly604Glu | |
| XM_017021588.1:c.1811G>A | XP_016877077.1:p.Gly604Glu | |
| NM_001164749.2:c.2117G>A MANE Select | NP_001158221.1:p.Gly706Glu | |
| NM_001165893.2:c.2027G>A | NP_001159365.1:p.Gly676Glu | |
| NM_022123.3:c.2021G>A | NP_071406.1:p.Gly674Glu | |
| NM_173159.3:c.2078G>A | NP_775182.1:p.Gly693Glu | |
| NM_001394988.1:c.2072G>A | NP_001381917.1:p.Gly691Glu | |
| NM_001394989.1:c.2018G>A | NP_001381918.1:p.Gly673Glu |