Linked Data
ClinVar Variation Id:
1041204
ClinVar RCV Id:
RCV001344973
dbSNP Id:
rs558926802
ExAC:
20:62038560 T / C
gnomAD v2:
20-62038560-T-C
gnomAD v3:
20-63407207-T-C
gnomAD v4:
20-63407207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407207T>C , CM000682.2:g.63407207T>C | GRCh38 |
| NC_000020.10:g.62038560T>C , CM000682.1:g.62038560T>C | GRCh37 |
| NC_000020.9:g.61509004T>C | NCBI36 |
| NG_009004.1:g.70434A>G | |
| NG_009004.2:g.70434A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2110A>G | ENSP00000516702.1:p.Ile704Val | |
| ENST00000359125.7:c.2056A>G MANE Select | ENSP00000352035.2:p.Ile686Val | |
| ENST00000637193.1:c.1453A>G | ENSP00000490734.1:p.Ile485Val | |
| ENST00000344462.8:c.1963A>G | ENSP00000339611.4:p.Ile655Val | |
| ENST00000357249.6:c.1624A>G | ENSP00000349789.3:p.Ile542Val | |
| ENST00000359125.6:c.2056A>G | ENSP00000352035.2:p.Ile686Val | |
| ENST00000360480.7:c.1972A>G | ENSP00000353668.3:p.Ile658Val | |
| ENST00000370224.5:c.2080A>G | ENSP00000359244.2:p.Ile694Val | |
| ENST00000625514.2:c.2044A>G | ENSP00000486040.1:p.Ile682Val | |
| ENST00000626839.2:c.2002A>G | ENSP00000486706.1:p.Ile668Val | |
| ENST00000629241.2:c.1972A>G | ENSP00000487142.1:p.Ile658Val | |
| ENST00000629676.2:c.1679+6243A>G | ENSP00000486194.1:n.1679+6243A>G | |
| NM_004518.4:c.1972A>G | NP_004509.2:p.Ile658Val | |
| NM_172106.1:c.2002A>G | NP_742104.1:p.Ile668Val | |
| NM_172107.2:c.2056A>G | NP_742105.1:p.Ile686Val | |
| NM_172108.3:c.1963A>G | NP_742106.1:p.Ile655Val | |
| XM_006723787.1:c.2098A>G | XP_006723850.1:p.Ile700Val | |
| XM_011528807.1:c.2164A>G | XP_011527109.1:p.Ile722Val | |
| XM_011528808.1:c.2161A>G | XP_011527110.1:p.Ile721Val | |
| XM_011528809.1:c.2134A>G | XP_011527111.1:p.Ile712Val | |
| XM_011528810.1:c.2110A>G | XP_011527112.1:p.Ile704Val | |
| XM_011528811.1:c.2080A>G | XP_011527113.1:p.Ile694Val | |
| XM_011528812.1:c.2053A>G | XP_011527114.1:p.Ile685Val | |
| XM_011528813.1:c.2038A>G | XP_011527115.1:p.Ile680Val | |
| XM_011528814.1:c.1645A>G | XP_011527116.1:p.Ile549Val | |
| NM_004518.5:c.1972A>G | NP_004509.2:p.Ile658Val | |
| NM_172106.2:c.2002A>G | NP_742104.1:p.Ile668Val | |
| NM_172107.3:c.2056A>G | NP_742105.1:p.Ile686Val | |
| NM_172108.4:c.1963A>G | NP_742106.1:p.Ile655Val | |
| XM_011528810.2:c.2110A>G | XP_011527112.1:p.Ile704Val | |
| XM_011528811.2:c.2080A>G | XP_011527113.1:p.Ile694Val | |
| XM_017027841.2:c.2107A>G | XP_016883330.1:p.Ile703Val | |
| XM_017027842.2:c.2044A>G | XP_016883331.1:p.Ile682Val | |
| XM_017027843.1:c.2041A>G | XP_016883332.1:p.Ile681Val | |
| XM_017027844.2:c.1999A>G | XP_016883333.1:p.Ile667Val | |
| XM_017027845.1:c.1072A>G | XP_016883334.1:p.Ile358Val | |
| NM_004518.6:c.1972A>G | NP_004509.2:p.Ile658Val | |
| NM_172106.3:c.2002A>G | NP_742104.1:p.Ile668Val | |
| NM_172107.4:c.2056A>G MANE Select | NP_742105.1:p.Ile686Val | |
| NM_172108.5:c.1963A>G | NP_742106.1:p.Ile655Val | |
| NM_001382235.1:c.2110A>G | NP_001369164.1:p.Ile704Val |