Linked Data
ClinVar Variation Id:
205848
dbSNP Id:
rs201701585
ExAC:
20:62038551 T / G
gnomAD v2:
20-62038551-T-G
gnomAD v3:
20-63407198-T-G
gnomAD v4:
20-63407198-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407198T>G , CM000682.2:g.63407198T>G | GRCh38 |
| NC_000020.10:g.62038551T>G , CM000682.1:g.62038551T>G | GRCh37 |
| NC_000020.9:g.61508995T>G | NCBI36 |
| NG_009004.1:g.70443A>C | |
| NG_009004.2:g.70443A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2119A>C | ENSP00000516702.1:p.Ile707Leu | |
| ENST00000359125.7:c.2065A>C MANE Select | ENSP00000352035.2:p.Ile689Leu | |
| ENST00000637193.1:c.1462A>C | ENSP00000490734.1:p.Ile488Leu | |
| ENST00000344462.8:c.1972A>C | ENSP00000339611.4:p.Ile658Leu | |
| ENST00000357249.6:c.1633A>C | ENSP00000349789.3:p.Ile545Leu | |
| ENST00000359125.6:c.2065A>C | ENSP00000352035.2:p.Ile689Leu | |
| ENST00000360480.7:c.1981A>C | ENSP00000353668.3:p.Ile661Leu | |
| ENST00000370224.5:c.2089A>C | ENSP00000359244.2:p.Ile697Leu | |
| ENST00000625514.2:c.2053A>C | ENSP00000486040.1:p.Ile685Leu | |
| ENST00000626839.2:c.2011A>C | ENSP00000486706.1:p.Ile671Leu | |
| ENST00000629241.2:c.1981A>C | ENSP00000487142.1:p.Ile661Leu | |
| ENST00000629676.2:c.1679+6252A>C | ENSP00000486194.1:n.1679+6252A>C | |
| NM_004518.4:c.1981A>C | NP_004509.2:p.Ile661Leu | |
| NM_172106.1:c.2011A>C | NP_742104.1:p.Ile671Leu | |
| NM_172107.2:c.2065A>C | NP_742105.1:p.Ile689Leu | |
| NM_172108.3:c.1972A>C | NP_742106.1:p.Ile658Leu | |
| XM_006723787.1:c.2107A>C | XP_006723850.1:p.Ile703Leu | |
| XM_011528807.1:c.2173A>C | XP_011527109.1:p.Ile725Leu | |
| XM_011528808.1:c.2170A>C | XP_011527110.1:p.Ile724Leu | |
| XM_011528809.1:c.2143A>C | XP_011527111.1:p.Ile715Leu | |
| XM_011528810.1:c.2119A>C | XP_011527112.1:p.Ile707Leu | |
| XM_011528811.1:c.2089A>C | XP_011527113.1:p.Ile697Leu | |
| XM_011528812.1:c.2062A>C | XP_011527114.1:p.Ile688Leu | |
| XM_011528813.1:c.2047A>C | XP_011527115.1:p.Ile683Leu | |
| XM_011528814.1:c.1654A>C | XP_011527116.1:p.Ile552Leu | |
| NM_004518.5:c.1981A>C | NP_004509.2:p.Ile661Leu | |
| NM_172106.2:c.2011A>C | NP_742104.1:p.Ile671Leu | |
| NM_172107.3:c.2065A>C | NP_742105.1:p.Ile689Leu | |
| NM_172108.4:c.1972A>C | NP_742106.1:p.Ile658Leu | |
| XM_011528810.2:c.2119A>C | XP_011527112.1:p.Ile707Leu | |
| XM_011528811.2:c.2089A>C | XP_011527113.1:p.Ile697Leu | |
| XM_017027841.2:c.2116A>C | XP_016883330.1:p.Ile706Leu | |
| XM_017027842.2:c.2053A>C | XP_016883331.1:p.Ile685Leu | |
| XM_017027843.1:c.2050A>C | XP_016883332.1:p.Ile684Leu | |
| XM_017027844.2:c.2008A>C | XP_016883333.1:p.Ile670Leu | |
| XM_017027845.1:c.1081A>C | XP_016883334.1:p.Ile361Leu | |
| NM_004518.6:c.1981A>C | NP_004509.2:p.Ile661Leu | |
| NM_172106.3:c.2011A>C | NP_742104.1:p.Ile671Leu | |
| NM_172107.4:c.2065A>C MANE Select | NP_742105.1:p.Ile689Leu | |
| NM_172108.5:c.1972A>C | NP_742106.1:p.Ile658Leu | |
| NM_001382235.1:c.2119A>C | NP_001369164.1:p.Ile707Leu |