Linked Data
dbSNP Id:
rs3753242
gnomAD v2:
1-2069681-C-T
gnomAD v3:
1-2138242-C-T
gnomAD v4:
1-2138242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2138242C>T , CM000663.2:g.2138242C>T | GRCh38 |
| NC_000001.10:g.2069681C>T , CM000663.1:g.2069681C>T | GRCh37 |
| NC_000001.9:g.2059541C>T | NCBI36 |
| NG_029616.1:g.92773C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378567.8:c.420+2895C>T MANE Select | ENSP00000367830.3:n.420+2895C>T | |
| ENST00000378567.7:c.420+2895C>T | ENSP00000367830.3:n.420+2895C>T | |
| ENST00000400920.5:c.-130+2895C>T | ENSP00000383711.1:n.-130+2895C>T | |
| ENST00000400921.6:c.-130+2895C>T | ENSP00000383712.2:n.-130+2895C>T | |
| ENST00000419838.6:n.86+2895C>T | ||
| ENST00000461106.6:c.108+2895C>T | ENSP00000426412.1:n.108+2895C>T | |
| ENST00000461465.5:c.-130+2895C>T | ENSP00000462105.1:n.-130+2895C>T | |
| ENST00000466352.5:c.-130+2895C>T | ENSP00000427134.1:n.-130+2895C>T | |
| ENST00000468310.5:c.330+2895C>T | ENSP00000424945.1:n.330+2895C>T | |
| ENST00000470511.5:c.-130+2895C>T | ENSP00000421350.1:n.-130+2895C>T | |
| ENST00000470596.5:c.-130+2895C>T | ENSP00000424228.1:n.-130+2895C>T | |
| ENST00000470986.5:c.-130+2895C>T | ENSP00000421219.1:n.-130+2895C>T | |
| ENST00000471018.6:c.-130+2895C>T | ENSP00000422349.1:n.-130+2895C>T | |
| ENST00000481140.5:c.*4+2895C>T | ENSP00000425643.1:n.*4+2895C>T | |
| ENST00000482686.5:c.-130+2895C>T | ENSP00000425317.1:n.-130+2895C>T | |
| ENST00000486681.5:c.-316+2895C>T | ENSP00000424763.1:n.-316+2895C>T | |
| ENST00000495347.5:c.-130+2895C>T | ENSP00000427085.1:n.-130+2895C>T | |
| ENST00000496325.5:c.-130+2895C>T | ENSP00000421869.1:n.-130+2895C>T | |
| ENST00000497183.5:c.-265+2895C>T | ENSP00000422764.1:n.-265+2895C>T | |
| NM_001033581.1:c.-130+2895C>T | NP_001028753.1:n.-130+2895C>T | |
| NM_001033582.1:c.-130+2895C>T | NP_001028754.1:n.-130+2895C>T | |
| NM_001242874.1:c.108+2895C>T | NP_001229803.1:n.108+2895C>T | |
| NM_002744.4:c.420+2895C>T | NP_002735.3:n.420+2895C>T | |
| XM_011541773.1:c.420+2895C>T | XP_011540075.1:n.420+2895C>T | |
| XM_011541774.1:c.108+2895C>T | XP_011540076.1:n.108+2895C>T | |
| XM_011541775.1:c.420+2895C>T | XP_011540077.1:n.420+2895C>T | |
| XM_011541776.1:c.-130+2895C>T | XP_011540078.1:n.-130+2895C>T | |
| XM_011541777.1:c.-130+2895C>T | XP_011540079.1:n.-130+2895C>T | |
| XM_011541778.1:c.-130+2895C>T | XP_011540080.1:n.-130+2895C>T | |
| XM_011541779.1:c.-265+2895C>T | XP_011540081.1:n.-265+2895C>T | |
| XM_011541780.1:c.-265+2895C>T | XP_011540082.1:n.-265+2895C>T | |
| XR_946707.1:n.577+2895C>T | ||
| XR_946708.1:n.267+2895C>T | ||
| NM_001033581.2:c.-130+2895C>T | NP_001028753.1:n.-130+2895C>T | |
| NM_001033582.2:c.-130+2895C>T | NP_001028754.1:n.-130+2895C>T | |
| NM_001242874.2:c.108+2895C>T | NP_001229803.1:n.108+2895C>T | |
| NM_001350803.1:c.-130+2895C>T | NP_001337732.1:n.-130+2895C>T | |
| NM_001350804.1:c.-130+2895C>T | NP_001337733.1:n.-130+2895C>T | |
| NM_001350805.1:c.-489+2895C>T | NP_001337734.1:n.-489+2895C>T | |
| NM_001350806.1:c.-489+2895C>T | NP_001337735.1:n.-489+2895C>T | |
| NM_002744.5:c.420+2895C>T | NP_002735.3:n.420+2895C>T | |
| NR_146911.1:n.554+2895C>T | ||
| XM_011541775.3:c.420+2895C>T | XP_011540077.1:n.420+2895C>T | |
| XM_017001789.1:c.420+2895C>T | XP_016857278.1:n.420+2895C>T | |
| XM_017001790.1:c.420+2895C>T | XP_016857279.1:n.420+2895C>T | |
| XM_017001792.1:c.-130+2895C>T | XP_016857281.1:n.-130+2895C>T | |
| XM_017001793.1:c.-130+2895C>T | XP_016857282.1:n.-130+2895C>T | |
| XM_017001802.1:c.-489+2895C>T | XP_016857291.1:n.-489+2895C>T | |
| XM_017001803.2:c.420+2895C>T | XP_016857292.1:n.420+2895C>T | |
| XM_024448390.1:c.-1213+2895C>T | XP_024304158.1:n.-1213+2895C>T | |
| XM_024448391.1:c.-130+2895C>T | XP_024304159.1:n.-130+2895C>T | |
| XM_024448396.1:c.-130+2895C>T | XP_024304164.1:n.-130+2895C>T | |
| XR_002957130.1:n.577+2895C>T | ||
| XR_002957131.1:n.577+2895C>T | ||
| NM_002744.6:c.420+2895C>T MANE Select | NP_002735.3:n.420+2895C>T | |
| NM_001033581.3:c.-130+2895C>T | NP_001028753.1:n.-130+2895C>T | |
| NM_001033582.3:c.-130+2895C>T | NP_001028754.1:n.-130+2895C>T | |
| NM_001242874.3:c.108+2895C>T | NP_001229803.1:n.108+2895C>T | |
| NM_001350803.2:c.-130+2895C>T | NP_001337732.1:n.-130+2895C>T | |
| NM_001350804.2:c.-130+2895C>T | NP_001337733.1:n.-130+2895C>T | |
| NM_001350805.2:c.-489+2895C>T | NP_001337734.1:n.-489+2895C>T | |
| NM_001350806.2:c.-489+2895C>T | NP_001337735.1:n.-489+2895C>T | |
| NR_146911.2:n.352+2895C>T |