Linked Data
ClinVar Variation Id:
658483
ClinVar RCV Id:
RCV000815315
dbSNP Id:
rs1555850884
ExAC:
20:62038511 G / A
gnomAD v2:
20-62038511-G-A
gnomAD v3:
20-63407158-G-A
gnomAD v4:
20-63407158-G-A
MyVariant Identifiers:
chr20:g.62038511G>A (hg19)
chr20:g.62038511_62038514delinsAAGA (hg19)
chr20:g.63407158G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407158G>A , CM000682.2:g.63407158G>A | GRCh38 |
| NC_000020.10:g.62038511G>A , CM000682.1:g.62038511G>A | GRCh37 |
| NC_000020.9:g.61508955G>A | NCBI36 |
| NG_009004.1:g.70483C>T | |
| NG_009004.2:g.70483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2159C>T | ENSP00000516702.1:p.Ser720Leu | |
| ENST00000359125.7:c.2105C>T MANE Select | ENSP00000352035.2:p.Ser702Leu | |
| ENST00000637193.1:c.1502C>T | ENSP00000490734.1:p.Ser501Leu | |
| ENST00000344462.8:c.2012C>T | ENSP00000339611.4:p.Ser671Leu | |
| ENST00000357249.6:c.1673C>T | ENSP00000349789.3:p.Ser558Leu | |
| ENST00000359125.6:c.2105C>T | ENSP00000352035.2:p.Ser702Leu | |
| ENST00000360480.7:c.2021C>T | ENSP00000353668.3:p.Ser674Leu | |
| ENST00000370224.5:c.2129C>T | ENSP00000359244.2:p.Ser710Leu | |
| ENST00000625514.2:c.2093C>T | ENSP00000486040.1:p.Ser698Leu | |
| ENST00000626839.2:c.2051C>T | ENSP00000486706.1:p.Ser684Leu | |
| ENST00000629241.2:c.2021C>T | ENSP00000487142.1:p.Ser674Leu | |
| ENST00000629676.2:c.1679+6292C>T | ENSP00000486194.1:n.1679+6292C>T | |
| NM_004518.4:c.2021C>T | NP_004509.2:p.Ser674Leu | |
| NM_172106.1:c.2051C>T | NP_742104.1:p.Ser684Leu | |
| NM_172107.2:c.2105C>T | NP_742105.1:p.Ser702Leu | |
| NM_172108.3:c.2012C>T | NP_742106.1:p.Ser671Leu | |
| XM_006723787.1:c.2147C>T | XP_006723850.1:p.Ser716Leu | |
| XM_011528807.1:c.2213C>T | XP_011527109.1:p.Ser738Leu | |
| XM_011528808.1:c.2210C>T | XP_011527110.1:p.Ser737Leu | |
| XM_011528809.1:c.2183C>T | XP_011527111.1:p.Ser728Leu | |
| XM_011528810.1:c.2159C>T | XP_011527112.1:p.Ser720Leu | |
| XM_011528811.1:c.2129C>T | XP_011527113.1:p.Ser710Leu | |
| XM_011528812.1:c.2102C>T | XP_011527114.1:p.Ser701Leu | |
| XM_011528813.1:c.2087C>T | XP_011527115.1:p.Ser696Leu | |
| XM_011528814.1:c.1694C>T | XP_011527116.1:p.Ser565Leu | |
| NM_004518.5:c.2021C>T | NP_004509.2:p.Ser674Leu | |
| NM_172106.2:c.2051C>T | NP_742104.1:p.Ser684Leu | |
| NM_172107.3:c.2105C>T | NP_742105.1:p.Ser702Leu | |
| NM_172108.4:c.2012C>T | NP_742106.1:p.Ser671Leu | |
| XM_011528810.2:c.2159C>T | XP_011527112.1:p.Ser720Leu | |
| XM_011528811.2:c.2129C>T | XP_011527113.1:p.Ser710Leu | |
| XM_017027841.2:c.2156C>T | XP_016883330.1:p.Ser719Leu | |
| XM_017027842.2:c.2093C>T | XP_016883331.1:p.Ser698Leu | |
| XM_017027843.1:c.2090C>T | XP_016883332.1:p.Ser697Leu | |
| XM_017027844.2:c.2048C>T | XP_016883333.1:p.Ser683Leu | |
| XM_017027845.1:c.1121C>T | XP_016883334.1:p.Ser374Leu | |
| NM_004518.6:c.2021C>T | NP_004509.2:p.Ser674Leu | |
| NM_172106.3:c.2051C>T | NP_742104.1:p.Ser684Leu | |
| NM_172107.4:c.2105C>T MANE Select | NP_742105.1:p.Ser702Leu | |
| NM_172108.5:c.2012C>T | NP_742106.1:p.Ser671Leu | |
| NM_001382235.1:c.2159C>T | NP_001369164.1:p.Ser720Leu |