Linked Data
ClinVar Variation Id:
2069011
ClinVar RCV Id:
RCV002975271
dbSNP Id:
rs370691675
ExAC:
4:120192481 A / T
gnomAD v2:
4-120192481-A-T
gnomAD v3:
4-119271326-A-T
gnomAD v4:
4-119271326-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119271326A>T , CM000666.2:g.119271326A>T | GRCh38 |
| NC_000004.11:g.120192481A>T , CM000666.1:g.120192481A>T | GRCh37 |
| NC_000004.10:g.120411929A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274030.11:c.1466A>T | ENSP00000274030.6:p.Gln489Leu | |
| ENST00000450251.6:c.1466A>T | ENSP00000409906.1:p.Gln489Leu | |
| ENST00000688980.1:c.1466A>T | ENSP00000509357.1:p.Gln489Leu | |
| ENST00000692078.1:c.1466A>T MANE Select | ENSP00000509606.1:p.Gln489Leu | |
| ENST00000274030.10:c.1466A>T | ENSP00000274030.5:p.Gln489Leu | |
| ENST00000450251.5:c.1466A>T | ENSP00000409906.1:p.Gln489Leu | |
| ENST00000507906.5:c.519A>T | ENSP00000421729.1:n.519A>T | |
| ENST00000509769.5:c.*516A>T | ENSP00000426628.1:n.*516A>T | |
| ENST00000510852.1:n.433A>T | ||
| NM_019050.2:c.1466A>T | NP_061923.2:p.Gln489Leu | |
| XM_005263073.2:c.1466A>T | XP_005263130.1:p.Gln489Leu | |
| XM_005263074.3:c.1466A>T | XP_005263131.1:p.Gln489Leu | |
| XM_005263075.1:c.1316A>T | XP_005263132.1:p.Gln439Leu | |
| XM_005263076.1:c.1313A>T | XP_005263133.1:p.Gln438Leu | |
| XM_005263077.2:c.1466A>T | XP_005263134.1:p.Gln489Leu | |
| XM_006714240.1:c.1118A>T | XP_006714303.1:p.Gln373Leu | |
| XM_011532037.1:c.1466A>T | XP_011530339.1:p.Gln489Leu | |
| XM_011532038.1:c.1118A>T | XP_011530340.1:p.Gln373Leu | |
| XM_005263073.4:c.1466A>T | XP_005263130.1:p.Gln489Leu | |
| XM_005263075.3:c.1316A>T | XP_005263132.1:p.Gln439Leu | |
| XM_005263076.3:c.1313A>T | XP_005263133.1:p.Gln438Leu | |
| XM_005263077.4:c.1466A>T | XP_005263134.1:p.Gln489Leu | |
| XM_011532037.2:c.1466A>T | XP_011530339.1:p.Gln489Leu | |
| XM_011532038.2:c.1118A>T | XP_011530340.1:p.Gln373Leu | |
| XM_017008312.2:c.1466A>T | XP_016863801.1:p.Gln489Leu | |
| XM_017008313.1:c.1466A>T | XP_016863802.1:p.Gln489Leu | |
| XM_017008314.1:c.1466A>T | XP_016863803.1:p.Gln489Leu | |
| XM_017008315.2:c.1466A>T | XP_016863804.1:p.Gln489Leu | |
| XM_017008316.2:c.1313A>T | XP_016863805.1:p.Gln438Leu | |
| XM_017008317.2:c.1466A>T | XP_016863806.1:p.Gln489Leu | |
| XM_017008318.2:c.1466A>T | XP_016863807.1:p.Gln489Leu | |
| NM_001371395.1:c.1466A>T MANE Select | NP_001358324.1:p.Gln489Leu | |
| NM_001371396.1:c.1313A>T | NP_001358325.1:p.Gln438Leu | |
| NM_001371397.1:c.1466A>T | NP_001358326.1:p.Gln489Leu | |
| NM_001371398.1:c.1466A>T | NP_001358327.1:p.Gln489Leu | |
| NM_001371399.1:c.1466A>T | NP_001358328.1:p.Gln489Leu | |
| NM_001389658.1:c.1466A>T | NP_001376587.1:p.Gln489Leu | |
| NM_001389659.1:c.1466A>T | NP_001376588.1:p.Gln489Leu | |
| NM_001389660.1:c.1316A>T | NP_001376589.1:p.Gln439Leu | |
| NM_001389661.1:c.1313A>T | NP_001376590.1:p.Gln438Leu | |
| NM_001389662.1:c.1118A>T | NP_001376591.1:p.Gln373Leu | |
| NM_001389663.1:c.1118A>T | NP_001376592.1:p.Gln373Leu | |
| NM_001389664.1:c.1118A>T | NP_001376593.1:p.Gln373Leu | |
| NM_001389665.1:c.965A>T | NP_001376594.1:p.Gln322Leu | |
| NM_001389666.1:c.1118A>T | NP_001376595.1:p.Gln373Leu | |
| NM_001389667.1:c.965A>T | NP_001376596.1:p.Gln322Leu | |
| NM_019050.3:c.1466A>T | NP_061923.2:p.Gln489Leu |