Linked Data
dbSNP Id:
rs6599389
gnomAD v2:
4-939113-G-A
gnomAD v3:
4-945325-G-A
gnomAD v4:
4-945325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.945325G>A , CM000666.2:g.945325G>A | GRCh38 |
| NC_000004.11:g.939113G>A , CM000666.1:g.939113G>A | GRCh37 |
| NC_000004.10:g.929113G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264771.9:c.-31-2384G>A MANE Select | ENSP00000264771.4:n.-31-2384G>A | |
| ENST00000264771.8:c.-31-2384G>A | ENSP00000264771.4:n.-31-2384G>A | |
| ENST00000438836.6:n.70-2384G>A | ||
| ENST00000452360.6:n.82-2384G>A | ||
| ENST00000504505.1:n.67-2384G>A | ||
| ENST00000504744.5:c.-31-2384G>A | ENSP00000423751.1:n.-31-2384G>A | |
| ENST00000504850.1:n.55-674G>A | ||
| ENST00000505734.1:n.110-2384G>A | ||
| ENST00000507319.5:c.-31-2384G>A | ENSP00000424746.1:n.-31-2384G>A | |
| ENST00000508204.5:c.-54-5096G>A | ENSP00000423669.1:n.-54-5096G>A | |
| ENST00000509508.5:c.-54-5096G>A | ENSP00000421750.1:n.-54-5096G>A | |
| ENST00000510493.5:c.-93-2791G>A | ENSP00000424208.1:n.-93-2791G>A | |
| ENST00000513682.5:c.-31-2384G>A | ENSP00000427626.1:n.-31-2384G>A | |
| ENST00000513952.5:c.-31-2384G>A | ENSP00000427218.1:n.-31-2384G>A | |
| ENST00000514453.5:c.-31-2384G>A | ENSP00000425181.1:n.-31-2384G>A | |
| ENST00000514546.5:c.-159-674G>A | ENSP00000425763.1:n.-159-674G>A | |
| ENST00000515492.5:c.-51-5099G>A | ENSP00000425867.1:n.-51-5099G>A | |
| ENST00000515740.5:c.-192-5096G>A | ENSP00000427039.1:n.-192-5096G>A | |
| ENST00000515876.5:n.81-2384G>A | ||
| ENST00000622959.3:c.-620-2384G>A | ENSP00000485461.1:n.-620-2384G>A | |
| NM_001297423.1:c.-738-2384G>A | NP_001284352.1:n.-738-2384G>A | |
| NM_001297424.1:c.-54-5096G>A | NP_001284353.1:n.-54-5096G>A | |
| NM_001297425.1:c.-51-5099G>A | NP_001284354.1:n.-51-5099G>A | |
| NM_001297426.1:c.-620-2384G>A | NP_001284355.1:n.-620-2384G>A | |
| NM_001297427.1:c.-876-2384G>A | NP_001284356.1:n.-876-2384G>A | |
| NM_001297428.1:c.-192-5096G>A | NP_001284357.1:n.-192-5096G>A | |
| NM_032326.3:c.-31-2384G>A | NP_115702.1:n.-31-2384G>A | |
| XM_005272301.2:c.-31-2384G>A | XP_005272358.1:n.-31-2384G>A | |
| XM_005272303.3:c.-482-2384G>A | XP_005272360.1:n.-482-2384G>A | |
| XM_005272304.1:c.-415-2384G>A | XP_005272361.1:n.-415-2384G>A | |
| XM_005272307.3:c.-31-2384G>A | XP_005272364.1:n.-31-2384G>A | |
| XM_005272303.4:c.-482-2384G>A | XP_005272360.1:n.-482-2384G>A | |
| XM_005272307.5:c.-31-2384G>A | XP_005272364.1:n.-31-2384G>A | |
| XM_017008701.1:c.-159-674G>A | XP_016864190.1:n.-159-674G>A | |
| XM_017008703.1:c.-866-674G>A | XP_016864192.1:n.-866-674G>A | |
| XM_017008704.2:c.-738-2384G>A | XP_016864193.1:n.-738-2384G>A | |
| XM_024454252.1:c.-839-2384G>A | XP_024310020.1:n.-839-2384G>A | |
| XM_024454253.1:c.-1089-674G>A | XP_024310021.1:n.-1089-674G>A | |
| XM_024454254.1:c.-1227-674G>A | XP_024310022.1:n.-1227-674G>A | |
| XM_024454255.1:c.-192-5096G>A | XP_024310023.1:n.-192-5096G>A | |
| NM_032326.4:c.-31-2384G>A MANE Select | NP_115702.1:n.-31-2384G>A | |
| NM_001297423.2:c.-738-2384G>A | NP_001284352.1:n.-738-2384G>A | |
| NM_001297424.2:c.-54-5096G>A | NP_001284353.1:n.-54-5096G>A | |
| NM_001297425.2:c.-51-5099G>A | NP_001284354.1:n.-51-5099G>A | |
| NM_001297427.2:c.-876-2384G>A | NP_001284356.1:n.-876-2384G>A | |
| NM_001297428.2:c.-192-5096G>A | NP_001284357.1:n.-192-5096G>A | |
| NM_001297426.2:c.-620-2384G>A | NP_001284355.1:n.-620-2384G>A |