Linked Data
dbSNP Id:
rs2503706
gnomAD v2:
1-2075251-A-G
gnomAD v3:
1-2143812-A-G
gnomAD v4:
1-2143812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2143812A>G , CM000663.2:g.2143812A>G | GRCh38 |
| NC_000001.10:g.2075251A>G , CM000663.1:g.2075251A>G | GRCh37 |
| NC_000001.9:g.2065111A>G | NCBI36 |
| NG_029616.1:g.98343A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378567.8:c.421-398A>G MANE Select | ENSP00000367830.3:n.421-398A>G | |
| ENST00000378567.7:c.421-398A>G | ENSP00000367830.3:n.421-398A>G | |
| ENST00000400920.5:c.-129-398A>G | ENSP00000383711.1:n.-129-398A>G | |
| ENST00000400921.6:c.-129-398A>G | ENSP00000383712.2:n.-129-398A>G | |
| ENST00000419838.6:n.87-398A>G | ||
| ENST00000461106.6:c.109-398A>G | ENSP00000426412.1:n.109-398A>G | |
| ENST00000461465.5:c.-129-398A>G | ENSP00000462105.1:n.-129-398A>G | |
| ENST00000466352.5:c.-129-398A>G | ENSP00000427134.1:n.-129-398A>G | |
| ENST00000468310.5:c.331-398A>G | ENSP00000424945.1:n.331-398A>G | |
| ENST00000470511.5:c.-129-398A>G | ENSP00000421350.1:n.-129-398A>G | |
| ENST00000470596.5:c.-129-398A>G | ENSP00000424228.1:n.-129-398A>G | |
| ENST00000470986.5:c.-129-398A>G | ENSP00000421219.1:n.-129-398A>G | |
| ENST00000471018.6:c.-129-398A>G | ENSP00000422349.1:n.-129-398A>G | |
| ENST00000481140.5:c.*5-398A>G | ENSP00000425643.1:n.*5-398A>G | |
| ENST00000482686.5:c.-129-398A>G | ENSP00000425317.1:n.-129-398A>G | |
| ENST00000486681.5:c.-315-398A>G | ENSP00000424763.1:n.-315-398A>G | |
| ENST00000495347.5:c.-129-398A>G | ENSP00000427085.1:n.-129-398A>G | |
| ENST00000496325.5:c.-129-398A>G | ENSP00000421869.1:n.-129-398A>G | |
| ENST00000497183.5:c.-264-398A>G | ENSP00000422764.1:n.-264-398A>G | |
| NM_001033581.1:c.-129-398A>G | NP_001028753.1:n.-129-398A>G | |
| NM_001033582.1:c.-129-398A>G | NP_001028754.1:n.-129-398A>G | |
| NM_001242874.1:c.109-398A>G | NP_001229803.1:n.109-398A>G | |
| NM_002744.4:c.421-398A>G | NP_002735.3:n.421-398A>G | |
| XM_011541773.1:c.421-398A>G | XP_011540075.1:n.421-398A>G | |
| XM_011541774.1:c.109-398A>G | XP_011540076.1:n.109-398A>G | |
| XM_011541775.1:c.421-398A>G | XP_011540077.1:n.421-398A>G | |
| XM_011541776.1:c.-129-398A>G | XP_011540078.1:n.-129-398A>G | |
| XM_011541777.1:c.-129-398A>G | XP_011540079.1:n.-129-398A>G | |
| XM_011541778.1:c.-129-398A>G | XP_011540080.1:n.-129-398A>G | |
| XM_011541779.1:c.-264-398A>G | XP_011540081.1:n.-264-398A>G | |
| XM_011541780.1:c.-264-398A>G | XP_011540082.1:n.-264-398A>G | |
| XR_946707.1:n.578-398A>G | ||
| XR_946708.1:n.268-398A>G | ||
| NM_001033581.2:c.-129-398A>G | NP_001028753.1:n.-129-398A>G | |
| NM_001033582.2:c.-129-398A>G | NP_001028754.1:n.-129-398A>G | |
| NM_001242874.2:c.109-398A>G | NP_001229803.1:n.109-398A>G | |
| NM_001350803.1:c.-129-398A>G | NP_001337732.1:n.-129-398A>G | |
| NM_001350804.1:c.-129-398A>G | NP_001337733.1:n.-129-398A>G | |
| NM_001350805.1:c.-488-398A>G | NP_001337734.1:n.-488-398A>G | |
| NM_001350806.1:c.-488-398A>G | NP_001337735.1:n.-488-398A>G | |
| NM_002744.5:c.421-398A>G | NP_002735.3:n.421-398A>G | |
| NR_146911.1:n.555-398A>G | ||
| XM_011541775.3:c.421-398A>G | XP_011540077.1:n.421-398A>G | |
| XM_017001789.1:c.421-398A>G | XP_016857278.1:n.421-398A>G | |
| XM_017001790.1:c.421-398A>G | XP_016857279.1:n.421-398A>G | |
| XM_017001792.1:c.-129-398A>G | XP_016857281.1:n.-129-398A>G | |
| XM_017001793.1:c.-129-398A>G | XP_016857282.1:n.-129-398A>G | |
| XM_017001802.1:c.-488-398A>G | XP_016857291.1:n.-488-398A>G | |
| XM_017001803.2:c.421-398A>G | XP_016857292.1:n.421-398A>G | |
| XM_024448390.1:c.-1212-398A>G | XP_024304158.1:n.-1212-398A>G | |
| XM_024448391.1:c.-129-398A>G | XP_024304159.1:n.-129-398A>G | |
| XM_024448396.1:c.-129-398A>G | XP_024304164.1:n.-129-398A>G | |
| XR_002957130.1:n.578-398A>G | ||
| XR_002957131.1:n.578-398A>G | ||
| NM_002744.6:c.421-398A>G MANE Select | NP_002735.3:n.421-398A>G | |
| NM_001033581.3:c.-129-398A>G | NP_001028753.1:n.-129-398A>G | |
| NM_001033582.3:c.-129-398A>G | NP_001028754.1:n.-129-398A>G | |
| NM_001242874.3:c.109-398A>G | NP_001229803.1:n.109-398A>G | |
| NM_001350803.2:c.-129-398A>G | NP_001337732.1:n.-129-398A>G | |
| NM_001350804.2:c.-129-398A>G | NP_001337733.1:n.-129-398A>G | |
| NM_001350805.2:c.-488-398A>G | NP_001337734.1:n.-488-398A>G | |
| NM_001350806.2:c.-488-398A>G | NP_001337735.1:n.-488-398A>G | |
| NR_146911.2:n.353-398A>G |