Linked Data
ClinVar Variation Id:
582756
ClinVar RCV Id:
RCV000706906
dbSNP Id:
rs371851085
ExAC:
20:62038587 G / A
gnomAD v2:
20-62038587-G-A
gnomAD v3:
20-63407234-G-A
gnomAD v4:
20-63407234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407234G>A , CM000682.2:g.63407234G>A | GRCh38 |
| NC_000020.10:g.62038587G>A , CM000682.1:g.62038587G>A | GRCh37 |
| NC_000020.9:g.61509031G>A | NCBI36 |
| NG_009004.1:g.70407C>T | |
| NG_009004.2:g.70407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2083C>T | ENSP00000516702.1:p.Arg695Trp | |
| ENST00000359125.7:c.2029C>T MANE Select | ENSP00000352035.2:p.Arg677Trp | |
| ENST00000637193.1:c.1426C>T | ENSP00000490734.1:p.Arg476Trp | |
| ENST00000344462.8:c.1936C>T | ENSP00000339611.4:p.Arg646Trp | |
| ENST00000357249.6:c.1597C>T | ENSP00000349789.3:p.Arg533Trp | |
| ENST00000359125.6:c.2029C>T | ENSP00000352035.2:p.Arg677Trp | |
| ENST00000360480.7:c.1945C>T | ENSP00000353668.3:p.Arg649Trp | |
| ENST00000370224.5:c.2053C>T | ENSP00000359244.2:p.Arg685Trp | |
| ENST00000625514.2:c.2017C>T | ENSP00000486040.1:p.Arg673Trp | |
| ENST00000626839.2:c.1975C>T | ENSP00000486706.1:p.Arg659Trp | |
| ENST00000629241.2:c.1945C>T | ENSP00000487142.1:p.Arg649Trp | |
| ENST00000629676.2:c.1679+6216C>T | ENSP00000486194.1:n.1679+6216C>T | |
| NM_004518.4:c.1945C>T | NP_004509.2:p.Arg649Trp | |
| NM_172106.1:c.1975C>T | NP_742104.1:p.Arg659Trp | |
| NM_172107.2:c.2029C>T | NP_742105.1:p.Arg677Trp | |
| NM_172108.3:c.1936C>T | NP_742106.1:p.Arg646Trp | |
| XM_006723787.1:c.2071C>T | XP_006723850.1:p.Arg691Trp | |
| XM_011528807.1:c.2137C>T | XP_011527109.1:p.Arg713Trp | |
| XM_011528808.1:c.2134C>T | XP_011527110.1:p.Arg712Trp | |
| XM_011528809.1:c.2107C>T | XP_011527111.1:p.Arg703Trp | |
| XM_011528810.1:c.2083C>T | XP_011527112.1:p.Arg695Trp | |
| XM_011528811.1:c.2053C>T | XP_011527113.1:p.Arg685Trp | |
| XM_011528812.1:c.2026C>T | XP_011527114.1:p.Arg676Trp | |
| XM_011528813.1:c.2011C>T | XP_011527115.1:p.Arg671Trp | |
| XM_011528814.1:c.1618C>T | XP_011527116.1:p.Arg540Trp | |
| NM_004518.5:c.1945C>T | NP_004509.2:p.Arg649Trp | |
| NM_172106.2:c.1975C>T | NP_742104.1:p.Arg659Trp | |
| NM_172107.3:c.2029C>T | NP_742105.1:p.Arg677Trp | |
| NM_172108.4:c.1936C>T | NP_742106.1:p.Arg646Trp | |
| XM_011528810.2:c.2083C>T | XP_011527112.1:p.Arg695Trp | |
| XM_011528811.2:c.2053C>T | XP_011527113.1:p.Arg685Trp | |
| XM_017027841.2:c.2080C>T | XP_016883330.1:p.Arg694Trp | |
| XM_017027842.2:c.2017C>T | XP_016883331.1:p.Arg673Trp | |
| XM_017027843.1:c.2014C>T | XP_016883332.1:p.Arg672Trp | |
| XM_017027844.2:c.1972C>T | XP_016883333.1:p.Arg658Trp | |
| XM_017027845.1:c.1045C>T | XP_016883334.1:p.Arg349Trp | |
| NM_004518.6:c.1945C>T | NP_004509.2:p.Arg649Trp | |
| NM_172106.3:c.1975C>T | NP_742104.1:p.Arg659Trp | |
| NM_172107.4:c.2029C>T MANE Select | NP_742105.1:p.Arg677Trp | |
| NM_172108.5:c.1936C>T | NP_742106.1:p.Arg646Trp | |
| NM_001382235.1:c.2083C>T | NP_001369164.1:p.Arg695Trp |