Linked Data
ClinVar Variation Id:
2997141
ClinVar RCV Id:
RCV003851260
gnomAD v4:
20-63406830-C-T
MyVariant Identifiers:
chr20:g.62038183C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406830C>T , CM000682.2:g.63406830C>T | GRCh38 |
| NC_000020.10:g.62038183C>T , CM000682.1:g.62038183C>T | GRCh37 |
| NC_000020.9:g.61508627C>T | NCBI36 |
| NG_009004.1:g.70811G>A | |
| NG_009004.2:g.70811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2487G>A | ENSP00000516702.1:p.Lys829= | |
| ENST00000359125.7:c.2433G>A MANE Select | ENSP00000352035.2:p.Lys811= | |
| ENST00000637193.1:c.1830G>A | ENSP00000490734.1:p.Lys610= | |
| ENST00000344462.8:c.2340G>A | ENSP00000339611.4:p.Lys780= | |
| ENST00000357249.6:c.2001G>A | ENSP00000349789.3:p.Lys667= | |
| ENST00000359125.6:c.2433G>A | ENSP00000352035.2:p.Lys811= | |
| ENST00000360480.7:c.2349G>A | ENSP00000353668.3:p.Lys783= | |
| ENST00000370224.5:c.2241+216G>A | ENSP00000359244.2:n.2241+216G>A | |
| ENST00000625514.2:c.2205+216G>A | ENSP00000486040.1:n.2205+216G>A | |
| ENST00000626839.2:c.2379G>A | ENSP00000486706.1:p.Lys793= | |
| ENST00000629241.2:c.2133+216G>A | ENSP00000487142.1:n.2133+216G>A | |
| ENST00000629676.2:c.1680-5987G>A | ENSP00000486194.1:n.1680-5987G>A | |
| NM_004518.4:c.2349G>A | NP_004509.2:p.Lys783= | |
| NM_172106.1:c.2379G>A | NP_742104.1:p.Lys793= | |
| NM_172107.2:c.2433G>A | NP_742105.1:p.Lys811= | |
| NM_172108.3:c.2340G>A | NP_742106.1:p.Lys780= | |
| XM_006723787.1:c.2475G>A | XP_006723850.1:p.Lys825= | |
| XM_011528807.1:c.2541G>A | XP_011527109.1:p.Lys847= | |
| XM_011528808.1:c.2538G>A | XP_011527110.1:p.Lys846= | |
| XM_011528809.1:c.2511G>A | XP_011527111.1:p.Lys837= | |
| XM_011528810.1:c.2487G>A | XP_011527112.1:p.Lys829= | |
| XM_011528811.1:c.2457G>A | XP_011527113.1:p.Lys819= | |
| XM_011528812.1:c.2430G>A | XP_011527114.1:p.Lys810= | |
| XM_011528813.1:c.2415G>A | XP_011527115.1:p.Lys805= | |
| XM_011528814.1:c.2022G>A | XP_011527116.1:p.Lys674= | |
| NM_004518.5:c.2349G>A | NP_004509.2:p.Lys783= | |
| NM_172106.2:c.2379G>A | NP_742104.1:p.Lys793= | |
| NM_172107.3:c.2433G>A | NP_742105.1:p.Lys811= | |
| NM_172108.4:c.2340G>A | NP_742106.1:p.Lys780= | |
| XM_011528810.2:c.2487G>A | XP_011527112.1:p.Lys829= | |
| XM_011528811.2:c.2457G>A | XP_011527113.1:p.Lys819= | |
| XM_017027841.2:c.2484G>A | XP_016883330.1:p.Lys828= | |
| XM_017027842.2:c.2421G>A | XP_016883331.1:p.Lys807= | |
| XM_017027843.1:c.2418G>A | XP_016883332.1:p.Lys806= | |
| XM_017027844.2:c.2376G>A | XP_016883333.1:p.Lys792= | |
| XM_017027845.1:c.1449G>A | XP_016883334.1:p.Lys483= | |
| NM_004518.6:c.2349G>A | NP_004509.2:p.Lys783= | |
| NM_172106.3:c.2379G>A | NP_742104.1:p.Lys793= | |
| NM_172107.4:c.2433G>A MANE Select | NP_742105.1:p.Lys811= | |
| NM_172108.5:c.2340G>A | NP_742106.1:p.Lys780= | |
| NM_001382235.1:c.2487G>A | NP_001369164.1:p.Lys829= |