Linked Data
ClinVar Variation Id:
1387804
ClinVar RCV Id:
RCV001884243
dbSNP Id:
rs779609892
ExAC:
20:62038502 G / A
gnomAD v2:
20-62038502-G-A
gnomAD v3:
20-63407149-G-A
gnomAD v4:
20-63407149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407149G>A , CM000682.2:g.63407149G>A | GRCh38 |
| NC_000020.10:g.62038502G>A , CM000682.1:g.62038502G>A | GRCh37 |
| NC_000020.9:g.61508946G>A | NCBI36 |
| NG_009004.1:g.70492C>T | |
| NG_009004.2:g.70492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2168C>T | ENSP00000516702.1:p.Pro723Leu | |
| ENST00000359125.7:c.2114C>T MANE Select | ENSP00000352035.2:p.Pro705Leu | |
| ENST00000637193.1:c.1511C>T | ENSP00000490734.1:p.Pro504Leu | |
| ENST00000344462.8:c.2021C>T | ENSP00000339611.4:p.Pro674Leu | |
| ENST00000357249.6:c.1682C>T | ENSP00000349789.3:p.Pro561Leu | |
| ENST00000359125.6:c.2114C>T | ENSP00000352035.2:p.Pro705Leu | |
| ENST00000360480.7:c.2030C>T | ENSP00000353668.3:p.Pro677Leu | |
| ENST00000370224.5:c.2138C>T | ENSP00000359244.2:p.Pro713Leu | |
| ENST00000625514.2:c.2102C>T | ENSP00000486040.1:p.Pro701Leu | |
| ENST00000626839.2:c.2060C>T | ENSP00000486706.1:p.Pro687Leu | |
| ENST00000629241.2:c.2030C>T | ENSP00000487142.1:p.Pro677Leu | |
| ENST00000629676.2:c.1679+6301C>T | ENSP00000486194.1:n.1679+6301C>T | |
| NM_004518.4:c.2030C>T | NP_004509.2:p.Pro677Leu | |
| NM_172106.1:c.2060C>T | NP_742104.1:p.Pro687Leu | |
| NM_172107.2:c.2114C>T | NP_742105.1:p.Pro705Leu | |
| NM_172108.3:c.2021C>T | NP_742106.1:p.Pro674Leu | |
| XM_006723787.1:c.2156C>T | XP_006723850.1:p.Pro719Leu | |
| XM_011528807.1:c.2222C>T | XP_011527109.1:p.Pro741Leu | |
| XM_011528808.1:c.2219C>T | XP_011527110.1:p.Pro740Leu | |
| XM_011528809.1:c.2192C>T | XP_011527111.1:p.Pro731Leu | |
| XM_011528810.1:c.2168C>T | XP_011527112.1:p.Pro723Leu | |
| XM_011528811.1:c.2138C>T | XP_011527113.1:p.Pro713Leu | |
| XM_011528812.1:c.2111C>T | XP_011527114.1:p.Pro704Leu | |
| XM_011528813.1:c.2096C>T | XP_011527115.1:p.Pro699Leu | |
| XM_011528814.1:c.1703C>T | XP_011527116.1:p.Pro568Leu | |
| NM_004518.5:c.2030C>T | NP_004509.2:p.Pro677Leu | |
| NM_172106.2:c.2060C>T | NP_742104.1:p.Pro687Leu | |
| NM_172107.3:c.2114C>T | NP_742105.1:p.Pro705Leu | |
| NM_172108.4:c.2021C>T | NP_742106.1:p.Pro674Leu | |
| XM_011528810.2:c.2168C>T | XP_011527112.1:p.Pro723Leu | |
| XM_011528811.2:c.2138C>T | XP_011527113.1:p.Pro713Leu | |
| XM_017027841.2:c.2165C>T | XP_016883330.1:p.Pro722Leu | |
| XM_017027842.2:c.2102C>T | XP_016883331.1:p.Pro701Leu | |
| XM_017027843.1:c.2099C>T | XP_016883332.1:p.Pro700Leu | |
| XM_017027844.2:c.2057C>T | XP_016883333.1:p.Pro686Leu | |
| XM_017027845.1:c.1130C>T | XP_016883334.1:p.Pro377Leu | |
| NM_004518.6:c.2030C>T | NP_004509.2:p.Pro677Leu | |
| NM_172106.3:c.2060C>T | NP_742104.1:p.Pro687Leu | |
| NM_172107.4:c.2114C>T MANE Select | NP_742105.1:p.Pro705Leu | |
| NM_172108.5:c.2021C>T | NP_742106.1:p.Pro674Leu | |
| NM_001382235.1:c.2168C>T | NP_001369164.1:p.Pro723Leu |