Linked Data
ClinVar Variation Id:
518797
dbSNP Id:
rs369082700
ExAC:
7:91690677 G / A
gnomAD v2:
7-91690677-G-A
gnomAD v3:
7-92061363-G-A
gnomAD v4:
7-92061363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92061363G>A , CM000669.2:g.92061363G>A | GRCh38 |
| NC_000007.13:g.91690677G>A , CM000669.1:g.91690677G>A | GRCh37 |
| NC_000007.12:g.91528613G>A | NCBI36 |
| NG_011623.1:g.125489G>A , LRG_331:g.125489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.5705G>A MANE Select | ENSP00000348573.3:p.Arg1902His | |
| ENST00000359028.7:c.5801G>A | ENSP00000351922.4:p.Arg1934His | |
| ENST00000491695.2:c.350G>A | ENSP00000494626.2:p.Arg117His | |
| ENST00000674381.2:c.*5434G>A | ENSP00000501536.2:n.*5434G>A | |
| ENST00000679448.1:c.5705G>A | ENSP00000505889.1:p.Arg1902His | |
| ENST00000679457.1:c.5705G>A | ENSP00000505450.1:p.Arg1902His | |
| ENST00000679474.1:n.5927G>A | ||
| ENST00000679521.1:c.5651G>A | ENSP00000505456.1:p.Arg1884His | |
| ENST00000679554.1:c.*5490G>A | ENSP00000506415.1:n.*5490G>A | |
| ENST00000679722.1:n.5927G>A | ||
| ENST00000679821.1:c.5447G>A | ENSP00000506040.1:p.Arg1816His | |
| ENST00000680047.1:n.5927G>A | ||
| ENST00000680072.1:c.5705G>A | ENSP00000506581.1:p.Arg1902His | |
| ENST00000680074.1:n.5927G>A | ||
| ENST00000680181.1:c.5612G>A | ENSP00000505548.1:p.Arg1871His | |
| ENST00000680513.1:c.5564G>A | ENSP00000505284.1:p.Arg1855His | |
| ENST00000680534.1:c.5705G>A | ENSP00000506674.1:p.Arg1902His | |
| ENST00000680766.1:c.5705G>A | ENSP00000505204.1:p.Arg1902His | |
| ENST00000680952.1:c.5705G>A | ENSP00000506407.1:p.Arg1902His | |
| ENST00000681412.1:c.5705G>A | ENSP00000506486.1:p.Arg1902His | |
| ENST00000681722.1:c.5705G>A | ENSP00000506566.1:p.Arg1902His | |
| ENST00000356239.7:c.5705G>A | ENSP00000348573.3:p.Arg1902His | |
| ENST00000358100.6:c.5564G>A | ENSP00000350813.3:p.Arg1855His | |
| ENST00000359028.6:c.5738G>A | ENSP00000351922.3:p.Arg1913His | |
| ENST00000491695.1:n.893G>A | ||
| NM_005751.4:c.5705G>A , LRG_331t1:c.5705G>A | NP_005742.4:p.Arg1902His | |
| NM_147185.2:c.5705G>A | NP_671714.1:p.Arg1902His | |
| XM_006715827.1:c.5564G>A | XP_006715890.1:p.Arg1855His | |
| XM_011515709.1:c.5837G>A | XP_011514011.1:p.Arg1946His | |
| XM_011515710.1:c.5837G>A | XP_011514012.1:p.Arg1946His | |
| XM_011515711.1:c.5801G>A | XP_011514013.1:p.Arg1934His | |
| XM_011515712.1:c.5837G>A | XP_011514014.1:p.Arg1946His | |
| XM_011515713.1:c.5783G>A | XP_011514015.1:p.Arg1928His | |
| XM_011515714.1:c.5837G>A | XP_011514016.1:p.Arg1946His | |
| XM_011515716.1:c.5741G>A | XP_011514018.1:p.Arg1914His | |
| XM_011515717.1:c.5696G>A | XP_011514019.1:p.Arg1899His | |
| XM_011515718.1:c.5741G>A | XP_011514020.1:p.Arg1914His | |
| XM_011515719.1:c.5741G>A | XP_011514021.1:p.Arg1914His | |
| XM_011515720.1:c.5600G>A | XP_011514022.1:p.Arg1867His | |
| XM_011515721.1:c.350G>A | XP_011514023.1:p.Arg117His | |
| XM_011515722.1:c.350G>A | XP_011514024.1:p.Arg117His | |
| XM_017011642.2:c.5801G>A | XP_016867131.1:p.Arg1934His | |
| XM_017011643.2:c.5801G>A | XP_016867132.1:p.Arg1934His | |
| XM_017011644.2:c.5801G>A | XP_016867133.1:p.Arg1934His | |
| XM_017011645.2:c.5747G>A | XP_016867134.1:p.Arg1916His | |
| XM_017011646.2:c.5801G>A | XP_016867135.1:p.Arg1934His | |
| XM_017011647.2:c.5708G>A | XP_016867136.1:p.Arg1903His | |
| XM_017011648.2:c.5705G>A | XP_016867137.1:p.Arg1902His | |
| XM_017011649.2:c.5801G>A | XP_016867138.1:p.Arg1934His | |
| XM_017011650.2:c.5705G>A | XP_016867139.1:p.Arg1902His | |
| XM_017011651.2:c.5660G>A | XP_016867140.1:p.Arg1887His | |
| XM_017011652.2:c.5801G>A | XP_016867141.1:p.Arg1934His | |
| XM_017011653.2:c.5612G>A | XP_016867142.1:p.Arg1871His | |
| XM_017011654.2:c.5564G>A | XP_016867143.1:p.Arg1855His | |
| XM_017011655.2:c.5429G>A | XP_016867144.1:p.Arg1810His | |
| XM_017011656.2:c.5429G>A | XP_016867145.1:p.Arg1810His | |
| XM_017011657.2:c.1466G>A | XP_016867146.1:p.Arg489His | |
| XM_017011658.2:c.350G>A | XP_016867147.1:p.Arg117His | |
| XM_017011659.2:c.350G>A | XP_016867148.1:p.Arg117His | |
| XM_017011660.2:c.350G>A | XP_016867149.1:p.Arg117His | |
| XM_024446631.1:c.5564G>A | XP_024302399.1:p.Arg1855His | |
| NM_147185.3:c.5705G>A | NP_671714.1:p.Arg1902His | |
| NM_001379277.1:c.350G>A | NP_001366206.1:p.Arg117His | |
| NM_005751.5:c.5705G>A MANE Select | NP_005742.4:p.Arg1902His |