Linked Data
ClinVar Variation Id:
1501747
ClinVar RCV Id:
RCV002042888
dbSNP Id:
rs200025766
ExAC:
14:24709889 C / T
gnomAD v2:
14-24709889-C-T
gnomAD v3:
14-24240683-C-T
gnomAD v4:
14-24240683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240683C>T , CM000676.2:g.24240683C>T | GRCh38 |
| NC_000014.8:g.24709889C>T , CM000676.1:g.24709889C>T | GRCh37 |
| NC_000014.7:g.23779729C>T | NCBI36 |
| NG_016650.1:g.6992G>A | |
| NG_054634.1:g.13267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1100G>A | ||
| ENST00000557921.3:c.689G>A | ENSP00000453157.3:p.Arg230Gln | |
| ENST00000699682.1:n.1187G>A | ||
| ENST00000699683.1:n.1237G>A | ||
| ENST00000699684.1:c.*390G>A | ENSP00000514523.1:n.*390G>A | |
| ENST00000699685.1:n.1001G>A | ||
| ENST00000699686.1:c.590G>A | ENSP00000514524.1:p.Arg197Gln | |
| ENST00000699687.1:c.692G>A | ENSP00000514525.1:p.Arg231Gln | |
| ENST00000699688.1:n.997G>A | ||
| ENST00000699689.1:n.1353G>A | ||
| ENST00000699690.1:n.1550G>A | ||
| ENST00000699691.1:n.1694G>A | ||
| ENST00000699693.1:n.1214G>A | ||
| ENST00000699694.1:n.1456G>A | ||
| ENST00000699695.1:c.*169G>A | ENSP00000514526.1:n.*169G>A | |
| ENST00000699696.1:n.1100G>A | ||
| ENST00000699697.1:c.797G>A | ENSP00000514527.1:p.Arg266Gln | |
| ENST00000699698.1:n.718G>A | ||
| ENST00000699699.1:n.1121G>A | ||
| ENST00000699700.1:n.1244G>A | ||
| ENST00000699701.1:c.*177G>A | ENSP00000514528.1:n.*177G>A | |
| ENST00000267415.12:c.797G>A MANE Select | ENSP00000267415.7:p.Arg266Gln | |
| ENST00000557921.2:c.689G>A | ENSP00000453157.2:p.Arg230Gln | |
| ENST00000646753.1:c.692G>A | ENSP00000494065.1:p.Arg231Gln | |
| ENST00000267415.11:c.797G>A | ENSP00000267415.7:p.Arg266Gln | |
| ENST00000399423.8:c.797G>A | ENSP00000382350.4:p.Arg266Gln | |
| ENST00000558476.5:c.359G>A | ENSP00000452724.1:p.Arg120Gln | |
| ENST00000558566.1:c.*169G>A | ENSP00000453025.1:n.*169G>A | |
| ENST00000559019.1:c.*169G>A | ENSP00000453675.1:n.*169G>A | |
| ENST00000559549.1:n.523G>A | ||
| ENST00000559969.5:c.753G>A | ||
| ENST00000626689.2:c.*169G>A | ENSP00000486681.1:n.*169G>A | |
| NM_001099274.1:c.797G>A | NP_001092744.1:p.Arg266Gln | |
| NM_012461.2:c.797G>A | NP_036593.2:p.Arg266Gln | |
| XM_005267528.2:c.797G>A | XP_005267585.1:p.Arg266Gln | |
| XM_005267529.2:c.692G>A | XP_005267586.1:p.Arg231Gln | |
| NM_001099274.2:c.797G>A | NP_001092744.1:p.Arg266Gln | |
| NM_001363668.1:c.692G>A | NP_001350597.1:p.Arg231Gln | |
| NM_012461.3:c.797G>A | NP_036593.2:p.Arg266Gln | |
| XM_011536642.2:c.*177G>A | XP_011534944.1:n.*177G>A | |
| XM_017021216.2:c.155G>A | XP_016876705.1:p.Arg52Gln | |
| XM_017021217.1:c.155G>A | XP_016876706.1:p.Arg52Gln | |
| NM_001099274.3:c.797G>A MANE Select | NP_001092744.1:p.Arg266Gln | |
| NM_001363668.2:c.692G>A | NP_001350597.1:p.Arg231Gln |