Linked Data
dbSNP Id:
rs11681930
gnomAD v2:
2-206063298-G-A
gnomAD v3:
2-205198574-G-A
gnomAD v4:
2-205198574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.205198574G>A , CM000664.2:g.205198574G>A | GRCh38 |
| NC_000002.11:g.206063298G>A , CM000664.1:g.206063298G>A | GRCh37 |
| NC_000002.10:g.205771543G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406610.7:c.2140+5254G>A MANE Select | ENSP00000385848.2:n.2140+5254G>A | |
| ENST00000349953.7:c.2140+5254G>A | ENSP00000340280.3:n.2140+5254G>A | |
| ENST00000351153.5:c.2140+5254G>A | ENSP00000317261.2:n.2140+5254G>A | |
| ENST00000358768.6:c.1954+5254G>A | ENSP00000351618.2:n.1954+5254G>A | |
| ENST00000406610.6:c.2140+5254G>A | ENSP00000385848.2:n.2140+5254G>A | |
| ENST00000462231.5:c.2140+5254G>A | ENSP00000473503.1:n.2140+5254G>A | |
| ENST00000613457.4:c.1732+5254G>A | ENSP00000484434.1:n.1732+5254G>A | |
| ENST00000614500.3:c.1918+5254G>A | ENSP00000481918.1:n.1918+5254G>A | |
| ENST00000622699.2:c.1918+5254G>A | ENSP00000482649.1:n.1918+5254G>A | |
| NM_001302769.1:c.2140+5254G>A | NP_001289698.1:n.2140+5254G>A | |
| NM_057177.6:c.2140+5254G>A | NP_476518.4:n.2140+5254G>A | |
| NM_152526.5:c.1954+5254G>A | NP_689739.4:n.1954+5254G>A | |
| NM_205863.3:c.2140+5254G>A | NP_995585.2:n.2140+5254G>A | |
| XM_011510550.1:c.2140+5254G>A | XP_011508852.1:n.2140+5254G>A | |
| XM_011510551.1:c.2140+5254G>A | XP_011508853.1:n.2140+5254G>A | |
| XM_011510552.1:c.2164+5254G>A | XP_011508854.1:n.2164+5254G>A | |
| XM_011510553.1:c.2164+5254G>A | XP_011508855.1:n.2164+5254G>A | |
| XM_011510552.2:c.2164+5254G>A | XP_011508854.1:n.2164+5254G>A | |
| XM_011510553.2:c.2164+5254G>A | XP_011508855.1:n.2164+5254G>A | |
| XM_017003283.1:c.2104+5254G>A | XP_016858772.1:n.2104+5254G>A | |
| XM_017003284.1:c.2074+5254G>A | XP_016858773.1:n.2074+5254G>A | |
| XM_017003285.1:c.1978+5254G>A | XP_016858774.1:n.1978+5254G>A | |
| XM_017003286.1:c.1972+5254G>A | XP_016858775.1:n.1972+5254G>A | |
| XM_017003287.1:c.2164+5254G>A | XP_016858776.1:n.2164+5254G>A | |
| XM_017003288.1:c.2164+5254G>A | XP_016858777.1:n.2164+5254G>A | |
| XM_017003289.1:c.1639+5254G>A | XP_016858778.1:n.1639+5254G>A | |
| XM_017003290.1:c.1543+5254G>A | XP_016858779.1:n.1543+5254G>A | |
| XM_017003291.1:c.1543+5254G>A | XP_016858780.1:n.1543+5254G>A | |
| XM_017003292.1:c.1543+5254G>A | XP_016858781.1:n.1543+5254G>A | |
| XM_017003293.1:c.1543+5254G>A | XP_016858782.1:n.1543+5254G>A | |
| NM_001302769.2:c.2140+5254G>A MANE Select | NP_001289698.1:n.2140+5254G>A | |
| NM_057177.7:c.2140+5254G>A | NP_476518.4:n.2140+5254G>A | |
| NM_152526.6:c.1954+5254G>A | NP_689739.4:n.1954+5254G>A | |
| NM_205863.4:c.2140+5254G>A | NP_995585.2:n.2140+5254G>A |