Linked Data
ClinVar Variation Id:
2976007
ClinVar RCV Id:
RCV003834093
dbSNP Id:
rs757682205
ExAC:
4:120192459 G / C
gnomAD v2:
4-120192459-G-C
gnomAD v3:
4-119271304-G-C
gnomAD v4:
4-119271304-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119271304G>C , CM000666.2:g.119271304G>C | GRCh38 |
| NC_000004.11:g.120192459G>C , CM000666.1:g.120192459G>C | GRCh37 |
| NC_000004.10:g.120411907G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274030.11:c.1444G>C | ENSP00000274030.6:p.Asp482His | |
| ENST00000450251.6:c.1444G>C | ENSP00000409906.1:p.Asp482His | |
| ENST00000688980.1:c.1444G>C | ENSP00000509357.1:p.Asp482His | |
| ENST00000692078.1:c.1444G>C MANE Select | ENSP00000509606.1:p.Asp482His | |
| ENST00000274030.10:c.1444G>C | ENSP00000274030.5:p.Asp482His | |
| ENST00000450251.5:c.1444G>C | ENSP00000409906.1:p.Asp482His | |
| ENST00000507906.5:c.497G>C | ENSP00000421729.1:n.497G>C | |
| ENST00000509769.5:c.*494G>C | ENSP00000426628.1:n.*494G>C | |
| ENST00000510852.1:n.411G>C | ||
| NM_019050.2:c.1444G>C | NP_061923.2:p.Asp482His | |
| XM_005263073.2:c.1444G>C | XP_005263130.1:p.Asp482His | |
| XM_005263074.3:c.1444G>C | XP_005263131.1:p.Asp482His | |
| XM_005263075.1:c.1294G>C | XP_005263132.1:p.Asp432His | |
| XM_005263076.1:c.1291G>C | XP_005263133.1:p.Asp431His | |
| XM_005263077.2:c.1444G>C | XP_005263134.1:p.Asp482His | |
| XM_006714240.1:c.1096G>C | XP_006714303.1:p.Asp366His | |
| XM_011532037.1:c.1444G>C | XP_011530339.1:p.Asp482His | |
| XM_011532038.1:c.1096G>C | XP_011530340.1:p.Asp366His | |
| XM_005263073.4:c.1444G>C | XP_005263130.1:p.Asp482His | |
| XM_005263075.3:c.1294G>C | XP_005263132.1:p.Asp432His | |
| XM_005263076.3:c.1291G>C | XP_005263133.1:p.Asp431His | |
| XM_005263077.4:c.1444G>C | XP_005263134.1:p.Asp482His | |
| XM_011532037.2:c.1444G>C | XP_011530339.1:p.Asp482His | |
| XM_011532038.2:c.1096G>C | XP_011530340.1:p.Asp366His | |
| XM_017008312.2:c.1444G>C | XP_016863801.1:p.Asp482His | |
| XM_017008313.1:c.1444G>C | XP_016863802.1:p.Asp482His | |
| XM_017008314.1:c.1444G>C | XP_016863803.1:p.Asp482His | |
| XM_017008315.2:c.1444G>C | XP_016863804.1:p.Asp482His | |
| XM_017008316.2:c.1291G>C | XP_016863805.1:p.Asp431His | |
| XM_017008317.2:c.1444G>C | XP_016863806.1:p.Asp482His | |
| XM_017008318.2:c.1444G>C | XP_016863807.1:p.Asp482His | |
| NM_001371395.1:c.1444G>C MANE Select | NP_001358324.1:p.Asp482His | |
| NM_001371396.1:c.1291G>C | NP_001358325.1:p.Asp431His | |
| NM_001371397.1:c.1444G>C | NP_001358326.1:p.Asp482His | |
| NM_001371398.1:c.1444G>C | NP_001358327.1:p.Asp482His | |
| NM_001371399.1:c.1444G>C | NP_001358328.1:p.Asp482His | |
| NM_001389658.1:c.1444G>C | NP_001376587.1:p.Asp482His | |
| NM_001389659.1:c.1444G>C | NP_001376588.1:p.Asp482His | |
| NM_001389660.1:c.1294G>C | NP_001376589.1:p.Asp432His | |
| NM_001389661.1:c.1291G>C | NP_001376590.1:p.Asp431His | |
| NM_001389662.1:c.1096G>C | NP_001376591.1:p.Asp366His | |
| NM_001389663.1:c.1096G>C | NP_001376592.1:p.Asp366His | |
| NM_001389664.1:c.1096G>C | NP_001376593.1:p.Asp366His | |
| NM_001389665.1:c.943G>C | NP_001376594.1:p.Asp315His | |
| NM_001389666.1:c.1096G>C | NP_001376595.1:p.Asp366His | |
| NM_001389667.1:c.943G>C | NP_001376596.1:p.Asp315His | |
| NM_019050.3:c.1444G>C | NP_061923.2:p.Asp482His |