Linked Data
ClinVar Variation Id:
1073802
ClinVar RCV Id:
RCV001386907
dbSNP Id:
rs2145484794
gnomAD v4:
20-63406958-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406958C>A , CM000682.2:g.63406958C>A | GRCh38 |
| NC_000020.10:g.62038311C>A , CM000682.1:g.62038311C>A | GRCh37 |
| NC_000020.9:g.61508755C>A | NCBI36 |
| NG_009004.1:g.70683G>T | |
| NG_009004.2:g.70683G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2359G>T | ENSP00000516702.1:p.Glu787Ter | |
| ENST00000359125.7:c.2305G>T MANE Select | ENSP00000352035.2:p.Glu769Ter | |
| ENST00000637193.1:c.1702G>T | ENSP00000490734.1:p.Glu568Ter | |
| ENST00000344462.8:c.2212G>T | ENSP00000339611.4:p.Glu738Ter | |
| ENST00000357249.6:c.1873G>T | ENSP00000349789.3:p.Glu625Ter | |
| ENST00000359125.6:c.2305G>T | ENSP00000352035.2:p.Glu769Ter | |
| ENST00000360480.7:c.2221G>T | ENSP00000353668.3:p.Glu741Ter | |
| ENST00000370224.5:c.2241+88G>T | ENSP00000359244.2:n.2241+88G>T | |
| ENST00000625514.2:c.2205+88G>T | ENSP00000486040.1:n.2205+88G>T | |
| ENST00000626839.2:c.2251G>T | ENSP00000486706.1:p.Glu751Ter | |
| ENST00000629241.2:c.2133+88G>T | ENSP00000487142.1:n.2133+88G>T | |
| ENST00000629676.2:c.1680-6115G>T | ENSP00000486194.1:n.1680-6115G>T | |
| NM_004518.4:c.2221G>T | NP_004509.2:p.Glu741Ter | |
| NM_172106.1:c.2251G>T | NP_742104.1:p.Glu751Ter | |
| NM_172107.2:c.2305G>T | NP_742105.1:p.Glu769Ter | |
| NM_172108.3:c.2212G>T | NP_742106.1:p.Glu738Ter | |
| XM_006723787.1:c.2347G>T | XP_006723850.1:p.Glu783Ter | |
| XM_011528807.1:c.2413G>T | XP_011527109.1:p.Glu805Ter | |
| XM_011528808.1:c.2410G>T | XP_011527110.1:p.Glu804Ter | |
| XM_011528809.1:c.2383G>T | XP_011527111.1:p.Glu795Ter | |
| XM_011528810.1:c.2359G>T | XP_011527112.1:p.Glu787Ter | |
| XM_011528811.1:c.2329G>T | XP_011527113.1:p.Glu777Ter | |
| XM_011528812.1:c.2302G>T | XP_011527114.1:p.Glu768Ter | |
| XM_011528813.1:c.2287G>T | XP_011527115.1:p.Glu763Ter | |
| XM_011528814.1:c.1894G>T | XP_011527116.1:p.Glu632Ter | |
| NM_004518.5:c.2221G>T | NP_004509.2:p.Glu741Ter | |
| NM_172106.2:c.2251G>T | NP_742104.1:p.Glu751Ter | |
| NM_172107.3:c.2305G>T | NP_742105.1:p.Glu769Ter | |
| NM_172108.4:c.2212G>T | NP_742106.1:p.Glu738Ter | |
| XM_011528810.2:c.2359G>T | XP_011527112.1:p.Glu787Ter | |
| XM_011528811.2:c.2329G>T | XP_011527113.1:p.Glu777Ter | |
| XM_017027841.2:c.2356G>T | XP_016883330.1:p.Glu786Ter | |
| XM_017027842.2:c.2293G>T | XP_016883331.1:p.Glu765Ter | |
| XM_017027843.1:c.2290G>T | XP_016883332.1:p.Glu764Ter | |
| XM_017027844.2:c.2248G>T | XP_016883333.1:p.Glu750Ter | |
| XM_017027845.1:c.1321G>T | XP_016883334.1:p.Glu441Ter | |
| NM_004518.6:c.2221G>T | NP_004509.2:p.Glu741Ter | |
| NM_172106.3:c.2251G>T | NP_742104.1:p.Glu751Ter | |
| NM_172107.4:c.2305G>T MANE Select | NP_742105.1:p.Glu769Ter | |
| NM_172108.5:c.2212G>T | NP_742106.1:p.Glu738Ter | |
| NM_001382235.1:c.2359G>T | NP_001369164.1:p.Glu787Ter |