Linked Data
dbSNP Id:
rs1213446712
gnomAD v2:
2-134016959-T-A
gnomAD v3:
2-133259387-T-A
gnomAD v4:
2-133259387-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.133259387T>A , CM000664.2:g.133259387T>A | GRCh38 |
| NC_000002.11:g.134016959T>A , CM000664.1:g.134016959T>A | GRCh37 |
| NC_000002.10:g.133733429T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409261.6:c.143+43650A>T MANE Select | ENSP00000387128.1:n.143+43650A>T | |
| ENST00000317721.10:c.143+43650A>T | ENSP00000380603.4:n.143+43650A>T | |
| ENST00000358991.4:c.143+43650A>T | ENSP00000351882.4:n.143+43650A>T | |
| ENST00000405974.7:c.143+43650A>T | ENSP00000385692.4:n.143+43650A>T | |
| ENST00000409213.5:c.143+43650A>T | ENSP00000386952.1:n.143+43650A>T | |
| ENST00000409261.5:c.143+43650A>T | ENSP00000387128.1:n.143+43650A>T | |
| ENST00000427594.5:c.130+43650A>T | ||
| NM_207363.2:c.143+43650A>T | NP_997246.2:n.143+43650A>T | |
| NM_207481.3:c.143+43650A>T | NP_997364.3:n.143+43650A>T | |
| XM_005263659.2:c.143+43650A>T | XP_005263716.1:n.143+43650A>T | |
| XM_005263660.2:c.143+43650A>T | XP_005263717.1:n.143+43650A>T | |
| XM_006712490.2:c.143+43650A>T | XP_006712553.1:n.143+43650A>T | |
| XM_011511097.1:c.143+43650A>T | XP_011509399.1:n.143+43650A>T | |
| XM_011511098.1:c.143+43650A>T | XP_011509400.1:n.143+43650A>T | |
| XM_011511099.1:c.143+43650A>T | XP_011509401.1:n.143+43650A>T | |
| XM_011511100.1:c.143+43650A>T | XP_011509402.1:n.143+43650A>T | |
| XM_011511101.1:c.68+43650A>T | XP_011509403.1:n.68+43650A>T | |
| XM_011511102.1:c.68+43650A>T | XP_011509404.1:n.68+43650A>T | |
| XM_011511103.1:c.-62+7126A>T | XP_011509405.1:n.-62+7126A>T | |
| XM_011511104.1:c.-61-45608A>T | XP_011509406.1:n.-61-45608A>T | |
| XM_005263659.4:c.143+43650A>T | XP_005263716.1:n.143+43650A>T | |
| XM_005263660.4:c.143+43650A>T | XP_005263717.1:n.143+43650A>T | |
| XM_011511097.3:c.143+43650A>T | XP_011509399.1:n.143+43650A>T | |
| XM_011511099.3:c.143+43650A>T | XP_011509401.1:n.143+43650A>T | |
| XM_011511100.3:c.143+43650A>T | XP_011509402.1:n.143+43650A>T | |
| XM_011511102.2:c.68+43650A>T | XP_011509404.1:n.68+43650A>T | |
| XM_011511103.2:c.-62+7126A>T | XP_011509405.1:n.-62+7126A>T | |
| XM_017003974.1:c.143+43650A>T | XP_016859463.1:n.143+43650A>T | |
| XM_017003975.2:c.143+43650A>T | XP_016859464.1:n.143+43650A>T | |
| XM_017003976.2:c.68+43650A>T | XP_016859465.1:n.68+43650A>T | |
| XM_017003977.2:c.68+43650A>T | XP_016859466.1:n.68+43650A>T | |
| XM_017003979.2:c.143+43650A>T | XP_016859468.1:n.143+43650A>T | |
| XM_017003980.1:c.-62+7126A>T | XP_016859469.1:n.-62+7126A>T | |
| NM_207363.3:c.143+43650A>T MANE Select | NP_997246.2:n.143+43650A>T | |
| NM_207481.4:c.143+43650A>T | NP_997364.3:n.143+43650A>T |