Linked Data
dbSNP Id:
rs762754905
gnomAD v2:
2-134017008-C-T
gnomAD v3:
2-133259436-C-T
gnomAD v4:
2-133259436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.133259436C>T , CM000664.2:g.133259436C>T | GRCh38 |
| NC_000002.11:g.134017008C>T , CM000664.1:g.134017008C>T | GRCh37 |
| NC_000002.10:g.133733478C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409261.6:c.143+43601G>A MANE Select | ENSP00000387128.1:n.143+43601G>A | |
| ENST00000317721.10:c.143+43601G>A | ENSP00000380603.4:n.143+43601G>A | |
| ENST00000358991.4:c.143+43601G>A | ENSP00000351882.4:n.143+43601G>A | |
| ENST00000405974.7:c.143+43601G>A | ENSP00000385692.4:n.143+43601G>A | |
| ENST00000409213.5:c.143+43601G>A | ENSP00000386952.1:n.143+43601G>A | |
| ENST00000409261.5:c.143+43601G>A | ENSP00000387128.1:n.143+43601G>A | |
| ENST00000427594.5:c.130+43601G>A | ||
| NM_207363.2:c.143+43601G>A | NP_997246.2:n.143+43601G>A | |
| NM_207481.3:c.143+43601G>A | NP_997364.3:n.143+43601G>A | |
| XM_005263659.2:c.143+43601G>A | XP_005263716.1:n.143+43601G>A | |
| XM_005263660.2:c.143+43601G>A | XP_005263717.1:n.143+43601G>A | |
| XM_006712490.2:c.143+43601G>A | XP_006712553.1:n.143+43601G>A | |
| XM_011511097.1:c.143+43601G>A | XP_011509399.1:n.143+43601G>A | |
| XM_011511098.1:c.143+43601G>A | XP_011509400.1:n.143+43601G>A | |
| XM_011511099.1:c.143+43601G>A | XP_011509401.1:n.143+43601G>A | |
| XM_011511100.1:c.143+43601G>A | XP_011509402.1:n.143+43601G>A | |
| XM_011511101.1:c.68+43601G>A | XP_011509403.1:n.68+43601G>A | |
| XM_011511102.1:c.68+43601G>A | XP_011509404.1:n.68+43601G>A | |
| XM_011511103.1:c.-62+7077G>A | XP_011509405.1:n.-62+7077G>A | |
| XM_011511104.1:c.-61-45657G>A | XP_011509406.1:n.-61-45657G>A | |
| XM_005263659.4:c.143+43601G>A | XP_005263716.1:n.143+43601G>A | |
| XM_005263660.4:c.143+43601G>A | XP_005263717.1:n.143+43601G>A | |
| XM_011511097.3:c.143+43601G>A | XP_011509399.1:n.143+43601G>A | |
| XM_011511099.3:c.143+43601G>A | XP_011509401.1:n.143+43601G>A | |
| XM_011511100.3:c.143+43601G>A | XP_011509402.1:n.143+43601G>A | |
| XM_011511102.2:c.68+43601G>A | XP_011509404.1:n.68+43601G>A | |
| XM_011511103.2:c.-62+7077G>A | XP_011509405.1:n.-62+7077G>A | |
| XM_017003974.1:c.143+43601G>A | XP_016859463.1:n.143+43601G>A | |
| XM_017003975.2:c.143+43601G>A | XP_016859464.1:n.143+43601G>A | |
| XM_017003976.2:c.68+43601G>A | XP_016859465.1:n.68+43601G>A | |
| XM_017003977.2:c.68+43601G>A | XP_016859466.1:n.68+43601G>A | |
| XM_017003979.2:c.143+43601G>A | XP_016859468.1:n.143+43601G>A | |
| XM_017003980.1:c.-62+7077G>A | XP_016859469.1:n.-62+7077G>A | |
| NM_207363.3:c.143+43601G>A MANE Select | NP_997246.2:n.143+43601G>A | |
| NM_207481.4:c.143+43601G>A | NP_997364.3:n.143+43601G>A |