Linked Data
ClinVar Variation Id:
456276
dbSNP Id:
rs146609069
ExAC:
14:45605287 G / A
gnomAD v2:
14-45605287-G-A
gnomAD v3:
14-45136084-G-A
gnomAD v4:
14-45136084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45136084G>A , CM000676.2:g.45136084G>A | GRCh38 |
| NC_000014.8:g.45605287G>A , CM000676.1:g.45605287G>A | GRCh37 |
| NC_000014.7:g.44675037G>A | NCBI36 |
| NG_007417.1:g.5152G>A , LRG_502:g.5152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554030.2:c.53G>A | ENSP00000512773.1:p.Arg18Gln | |
| ENST00000556036.6:c.53G>A | ENSP00000450596.1:p.Arg18Gln | |
| ENST00000556250.6:c.53G>A | ENSP00000452033.2:p.Arg18Gln | |
| ENST00000696641.1:c.53G>A | ENSP00000512774.1:p.Arg18Gln | |
| ENST00000696642.1:c.53G>A | ENSP00000512775.1:p.Arg18Gln | |
| ENST00000696643.1:c.53G>A | ENSP00000512776.1:p.Arg18Gln | |
| ENST00000696646.1:c.53G>A | ENSP00000512777.1:p.Arg18Gln | |
| ENST00000696647.1:c.53G>A | ENSP00000512778.1:p.Arg18Gln | |
| ENST00000696648.1:c.53G>A | ENSP00000512779.1:p.Arg18Gln | |
| ENST00000696649.1:c.53G>A | ENSP00000512780.1:p.Arg18Gln | |
| ENST00000696650.1:n.79G>A | ||
| ENST00000696656.1:n.82G>A | ||
| ENST00000696657.1:c.53G>A | ENSP00000512784.1:p.Arg18Gln | |
| ENST00000696658.1:n.74G>A | ||
| ENST00000696662.1:c.53G>A | ENSP00000512788.1:p.Arg18Gln | |
| ENST00000696675.1:c.53G>A | ENSP00000512799.1:p.Arg18Gln | |
| ENST00000696676.1:c.53G>A | ENSP00000512800.1:p.Arg18Gln | |
| ENST00000696677.1:c.53G>A | ENSP00000512801.1:p.Arg18Gln | |
| ENST00000696678.1:n.82G>A | ||
| ENST00000696679.1:c.53G>A | ENSP00000512802.1:p.Arg18Gln | |
| ENST00000696680.1:c.53G>A | ENSP00000512803.1:p.Arg18Gln | |
| ENST00000696681.1:c.53G>A | ENSP00000512804.1:p.Arg18Gln | |
| ENST00000696682.1:c.53G>A | ENSP00000512805.1:p.Arg18Gln | |
| ENST00000267430.10:c.53G>A MANE Select | ENSP00000267430.5:p.Arg18Gln | |
| ENST00000267430.9:c.53G>A | ENSP00000267430.5:p.Arg18Gln | |
| ENST00000542564.6:c.53G>A | ENSP00000442493.2:p.Arg18Gln | |
| ENST00000556036.5:c.53G>A | ENSP00000450596.1:p.Arg18Gln | |
| NM_001308133.1:c.53G>A | NP_001295062.1:p.Arg18Gln | |
| NM_001308134.1:c.53G>A | NP_001295063.1:p.Arg18Gln | |
| NM_020937.2:c.53G>A , LRG_502t1:c.53G>A | NP_065988.1:p.Arg18Gln | |
| NM_020937.3:c.53G>A | NP_065988.1:p.Arg18Gln | |
| XM_011537034.1:c.53G>A | XP_011535336.1:p.Arg18Gln | |
| XM_011537035.1:c.53G>A | XP_011535337.1:p.Arg18Gln | |
| XM_011537036.1:c.53G>A | XP_011535338.1:p.Arg18Gln | |
| XM_011537034.2:c.53G>A | XP_011535336.1:p.Arg18Gln | |
| XM_011537035.3:c.53G>A | XP_011535337.1:p.Arg18Gln | |
| XM_017021523.1:c.53G>A | XP_016877012.1:p.Arg18Gln | |
| XM_017021525.2:c.-922G>A | XP_016877014.1:n.-922G>A | |
| XM_017021527.1:c.-1000G>A | XP_016877016.1:n.-1000G>A | |
| XR_001750470.1:n.145G>A | ||
| XR_001750471.2:n.145G>A | ||
| XR_001750472.1:n.145G>A | ||
| NM_020937.4:c.53G>A MANE Select | NP_065988.1:p.Arg18Gln | |
| NM_001308133.2:c.53G>A | NP_001295062.1:p.Arg18Gln | |
| NM_001308134.2:c.53G>A | NP_001295063.1:p.Arg18Gln |