Linked Data
ClinVar Variation Id:
2221538
ClinVar RCV Id:
RCV004090016
dbSNP Id:
rs762396688
ExAC:
14:34269626 G / A
gnomAD v2:
14-34269626-G-A
gnomAD v3:
14-33800420-G-A
gnomAD v4:
14-33800420-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800420G>A , CM000676.2:g.33800420G>A | GRCh38 |
| NC_000014.8:g.34269626G>A , CM000676.1:g.34269626G>A | GRCh37 |
| NC_000014.7:g.33339377G>A | NCBI36 |
| NG_013036.1:g.866168G>A | |
| NG_013036.2:g.866168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2113G>A MANE Select | ENSP00000348460.4:p.Gly705Arg | |
| ENST00000551634.6:c.2122G>A | ENSP00000448373.2:p.Gly708Arg | |
| ENST00000680362.1:c.2013G>A | ||
| ENST00000681323.1:c.793+2839G>A | ||
| ENST00000346562.6:c.2017G>A | ENSP00000319610.5:p.Gly673Arg | |
| ENST00000356141.8:c.2113G>A | ENSP00000348460.4:p.Gly705Arg | |
| ENST00000357798.9:c.2074G>A | ENSP00000350446.5:p.Gly692Arg | |
| ENST00000548645.5:c.2023G>A | ENSP00000448916.1:p.Gly675Arg | |
| ENST00000551492.5:c.2128G>A | ENSP00000450392.1:p.Gly710Arg | |
| ENST00000551634.5:c.2035G>A | ENSP00000448373.1:p.Gly679Arg | |
| NM_001164749.1:c.2113G>A | NP_001158221.1:p.Gly705Arg | |
| NM_001165893.1:c.2023G>A | NP_001159365.1:p.Gly675Arg | |
| NM_022123.2:c.2017G>A | NP_071406.1:p.Gly673Arg | |
| NM_173159.2:c.2074G>A | NP_775182.1:p.Gly692Arg | |
| XM_005267991.2:c.2134G>A | XP_005268048.1:p.Gly712Arg | |
| XM_005267992.2:c.2128G>A | XP_005268049.1:p.Gly710Arg | |
| XM_005267993.2:c.2074G>A | XP_005268050.1:p.Gly692Arg | |
| XM_011537067.1:c.2164G>A | XP_011535369.1:p.Gly722Arg | |
| XM_011537068.1:c.2155G>A | XP_011535370.1:p.Gly719Arg | |
| XM_011537069.1:c.2125G>A | XP_011535371.1:p.Gly709Arg | |
| XM_011537070.1:c.2068G>A | XP_011535372.1:p.Gly690Arg | |
| XM_011537071.1:c.2035G>A | XP_011535373.1:p.Gly679Arg | |
| XM_011537072.1:c.2014G>A | XP_011535374.1:p.Gly672Arg | |
| XM_011537073.1:c.1807G>A | XP_011535375.1:p.Gly603Arg | |
| XM_011537074.1:c.1807G>A | XP_011535376.1:p.Gly603Arg | |
| XM_005267991.3:c.2221G>A | XP_005268048.2:p.Gly741Arg | |
| XM_005267992.3:c.2215G>A | XP_005268049.2:p.Gly739Arg | |
| XM_011537067.2:c.2164G>A | XP_011535369.1:p.Gly722Arg | |
| XM_011537069.2:c.2212G>A | XP_011535371.2:p.Gly738Arg | |
| XM_011537070.2:c.2068G>A | XP_011535372.1:p.Gly690Arg | |
| XM_011537071.2:c.2122G>A | XP_011535373.2:p.Gly708Arg | |
| XM_011537072.2:c.2014G>A | XP_011535374.1:p.Gly672Arg | |
| XM_017021582.1:c.2272G>A | XP_016877071.1:p.Gly758Arg | |
| XM_017021583.1:c.2263G>A | XP_016877072.1:p.Gly755Arg | |
| XM_017021584.1:c.2182G>A | XP_016877073.1:p.Gly728Arg | |
| XM_017021585.1:c.2131G>A | XP_016877074.1:p.Gly711Arg | |
| XM_017021586.1:c.1807G>A | XP_016877075.1:p.Gly603Arg | |
| XM_017021587.1:c.1807G>A | XP_016877076.1:p.Gly603Arg | |
| XM_017021588.1:c.1807G>A | XP_016877077.1:p.Gly603Arg | |
| NM_001164749.2:c.2113G>A MANE Select | NP_001158221.1:p.Gly705Arg | |
| NM_001165893.2:c.2023G>A | NP_001159365.1:p.Gly675Arg | |
| NM_022123.3:c.2017G>A | NP_071406.1:p.Gly673Arg | |
| NM_173159.3:c.2074G>A | NP_775182.1:p.Gly692Arg | |
| NM_001394988.1:c.2068G>A | NP_001381917.1:p.Gly690Arg | |
| NM_001394989.1:c.2014G>A | NP_001381918.1:p.Gly672Arg |