Linked Data
ClinVar Variation Id:
1153660
ClinVar RCV Id:
RCV001495425
dbSNP Id:
rs2079953374
gnomAD v4:
20-63406863-A-G
MyVariant Identifiers:
chr20:g.62038216A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406863A>G , CM000682.2:g.63406863A>G | GRCh38 |
| NC_000020.10:g.62038216A>G , CM000682.1:g.62038216A>G | GRCh37 |
| NC_000020.9:g.61508660A>G | NCBI36 |
| NG_009004.1:g.70778T>C | |
| NG_009004.2:g.70778T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2454T>C | ENSP00000516702.1:p.Arg818= | |
| ENST00000359125.7:c.2400T>C MANE Select | ENSP00000352035.2:p.Arg800= | |
| ENST00000637193.1:c.1797T>C | ENSP00000490734.1:p.Arg599= | |
| ENST00000344462.8:c.2307T>C | ENSP00000339611.4:p.Arg769= | |
| ENST00000357249.6:c.1968T>C | ENSP00000349789.3:p.Arg656= | |
| ENST00000359125.6:c.2400T>C | ENSP00000352035.2:p.Arg800= | |
| ENST00000360480.7:c.2316T>C | ENSP00000353668.3:p.Arg772= | |
| ENST00000370224.5:c.2241+183T>C | ENSP00000359244.2:n.2241+183T>C | |
| ENST00000625514.2:c.2205+183T>C | ENSP00000486040.1:n.2205+183T>C | |
| ENST00000626839.2:c.2346T>C | ENSP00000486706.1:p.Arg782= | |
| ENST00000629241.2:c.2133+183T>C | ENSP00000487142.1:n.2133+183T>C | |
| ENST00000629676.2:c.1680-6020T>C | ENSP00000486194.1:n.1680-6020T>C | |
| NM_004518.4:c.2316T>C | NP_004509.2:p.Arg772= | |
| NM_172106.1:c.2346T>C | NP_742104.1:p.Arg782= | |
| NM_172107.2:c.2400T>C | NP_742105.1:p.Arg800= | |
| NM_172108.3:c.2307T>C | NP_742106.1:p.Arg769= | |
| XM_006723787.1:c.2442T>C | XP_006723850.1:p.Arg814= | |
| XM_011528807.1:c.2508T>C | XP_011527109.1:p.Arg836= | |
| XM_011528808.1:c.2505T>C | XP_011527110.1:p.Arg835= | |
| XM_011528809.1:c.2478T>C | XP_011527111.1:p.Arg826= | |
| XM_011528810.1:c.2454T>C | XP_011527112.1:p.Arg818= | |
| XM_011528811.1:c.2424T>C | XP_011527113.1:p.Arg808= | |
| XM_011528812.1:c.2397T>C | XP_011527114.1:p.Arg799= | |
| XM_011528813.1:c.2382T>C | XP_011527115.1:p.Arg794= | |
| XM_011528814.1:c.1989T>C | XP_011527116.1:p.Arg663= | |
| NM_004518.5:c.2316T>C | NP_004509.2:p.Arg772= | |
| NM_172106.2:c.2346T>C | NP_742104.1:p.Arg782= | |
| NM_172107.3:c.2400T>C | NP_742105.1:p.Arg800= | |
| NM_172108.4:c.2307T>C | NP_742106.1:p.Arg769= | |
| XM_011528810.2:c.2454T>C | XP_011527112.1:p.Arg818= | |
| XM_011528811.2:c.2424T>C | XP_011527113.1:p.Arg808= | |
| XM_017027841.2:c.2451T>C | XP_016883330.1:p.Arg817= | |
| XM_017027842.2:c.2388T>C | XP_016883331.1:p.Arg796= | |
| XM_017027843.1:c.2385T>C | XP_016883332.1:p.Arg795= | |
| XM_017027844.2:c.2343T>C | XP_016883333.1:p.Arg781= | |
| XM_017027845.1:c.1416T>C | XP_016883334.1:p.Arg472= | |
| NM_004518.6:c.2316T>C | NP_004509.2:p.Arg772= | |
| NM_172106.3:c.2346T>C | NP_742104.1:p.Arg782= | |
| NM_172107.4:c.2400T>C MANE Select | NP_742105.1:p.Arg800= | |
| NM_172108.5:c.2307T>C | NP_742106.1:p.Arg769= | |
| NM_001382235.1:c.2454T>C | NP_001369164.1:p.Arg818= |