Linked Data
ClinVar Variation Id:
1051022
dbSNP Id:
rs1426709866
gnomAD v2:
20-62038521-T-C
gnomAD v4:
20-63407168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407168T>C , CM000682.2:g.63407168T>C | GRCh38 |
| NC_000020.10:g.62038521T>C , CM000682.1:g.62038521T>C | GRCh37 |
| NC_000020.9:g.61508965T>C | NCBI36 |
| NG_009004.1:g.70473A>G | |
| NG_009004.2:g.70473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2149A>G | ENSP00000516702.1:p.Lys717Glu | |
| ENST00000359125.7:c.2095A>G MANE Select | ENSP00000352035.2:p.Lys699Glu | |
| ENST00000637193.1:c.1492A>G | ENSP00000490734.1:p.Lys498Glu | |
| ENST00000344462.8:c.2002A>G | ENSP00000339611.4:p.Lys668Glu | |
| ENST00000357249.6:c.1663A>G | ENSP00000349789.3:p.Lys555Glu | |
| ENST00000359125.6:c.2095A>G | ENSP00000352035.2:p.Lys699Glu | |
| ENST00000360480.7:c.2011A>G | ENSP00000353668.3:p.Lys671Glu | |
| ENST00000370224.5:c.2119A>G | ENSP00000359244.2:p.Lys707Glu | |
| ENST00000625514.2:c.2083A>G | ENSP00000486040.1:p.Lys695Glu | |
| ENST00000626839.2:c.2041A>G | ENSP00000486706.1:p.Lys681Glu | |
| ENST00000629241.2:c.2011A>G | ENSP00000487142.1:p.Lys671Glu | |
| ENST00000629676.2:c.1679+6282A>G | ENSP00000486194.1:n.1679+6282A>G | |
| NM_004518.4:c.2011A>G | NP_004509.2:p.Lys671Glu | |
| NM_172106.1:c.2041A>G | NP_742104.1:p.Lys681Glu | |
| NM_172107.2:c.2095A>G | NP_742105.1:p.Lys699Glu | |
| NM_172108.3:c.2002A>G | NP_742106.1:p.Lys668Glu | |
| XM_006723787.1:c.2137A>G | XP_006723850.1:p.Lys713Glu | |
| XM_011528807.1:c.2203A>G | XP_011527109.1:p.Lys735Glu | |
| XM_011528808.1:c.2200A>G | XP_011527110.1:p.Lys734Glu | |
| XM_011528809.1:c.2173A>G | XP_011527111.1:p.Lys725Glu | |
| XM_011528810.1:c.2149A>G | XP_011527112.1:p.Lys717Glu | |
| XM_011528811.1:c.2119A>G | XP_011527113.1:p.Lys707Glu | |
| XM_011528812.1:c.2092A>G | XP_011527114.1:p.Lys698Glu | |
| XM_011528813.1:c.2077A>G | XP_011527115.1:p.Lys693Glu | |
| XM_011528814.1:c.1684A>G | XP_011527116.1:p.Lys562Glu | |
| NM_004518.5:c.2011A>G | NP_004509.2:p.Lys671Glu | |
| NM_172106.2:c.2041A>G | NP_742104.1:p.Lys681Glu | |
| NM_172107.3:c.2095A>G | NP_742105.1:p.Lys699Glu | |
| NM_172108.4:c.2002A>G | NP_742106.1:p.Lys668Glu | |
| XM_011528810.2:c.2149A>G | XP_011527112.1:p.Lys717Glu | |
| XM_011528811.2:c.2119A>G | XP_011527113.1:p.Lys707Glu | |
| XM_017027841.2:c.2146A>G | XP_016883330.1:p.Lys716Glu | |
| XM_017027842.2:c.2083A>G | XP_016883331.1:p.Lys695Glu | |
| XM_017027843.1:c.2080A>G | XP_016883332.1:p.Lys694Glu | |
| XM_017027844.2:c.2038A>G | XP_016883333.1:p.Lys680Glu | |
| XM_017027845.1:c.1111A>G | XP_016883334.1:p.Lys371Glu | |
| NM_004518.6:c.2011A>G | NP_004509.2:p.Lys671Glu | |
| NM_172106.3:c.2041A>G | NP_742104.1:p.Lys681Glu | |
| NM_172107.4:c.2095A>G MANE Select | NP_742105.1:p.Lys699Glu | |
| NM_172108.5:c.2002A>G | NP_742106.1:p.Lys668Glu | |
| NM_001382235.1:c.2149A>G | NP_001369164.1:p.Lys717Glu |