Linked Data
dbSNP Id:
rs11594111
gnomAD v2:
10-14945406-A-G
gnomAD v3:
10-14903407-A-G
gnomAD v4:
10-14903407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14903407A>G , CM000672.2:g.14903407A>G | GRCh38 |
| NC_000010.10:g.14945406A>G , CM000672.1:g.14945406A>G | GRCh37 |
| NC_000010.9:g.14985412A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456122.2:c.*1343-4095T>C (DCLRE1C) | ENSP00000413180.3:n.*1343-4095T>C | |
| ENST00000697047.1:c.1783-4095T>C (DCLRE1C) | ENSP00000513066.1:n.1783-4095T>C | |
| ENST00000697070.1:c.2030-4095T>C (DCLRE1C) | ENSP00000513085.1:n.2030-4095T>C | |
| ENST00000697071.1:c.*1703-4095T>C (DCLRE1C) | ENSP00000513086.1:n.*1703-4095T>C | |
| ENST00000697072.1:c.*795-4095T>C (DCLRE1C) | ENSP00000513087.1:n.*795-4095T>C | |
| ENST00000697073.1:c.*1561-4095T>C (DCLRE1C) | ENSP00000513088.2:n.*1561-4095T>C | |
| ENST00000697074.1:c.*1808-4095T>C (DCLRE1C) | ENSP00000513089.2:n.*1808-4095T>C | |
| ENST00000354919.11:c.*895A>G (SUV39H2) MANE Select | ENSP00000346997.6:n.*895A>G | |
| ENST00000313519.9:c.*895A>G (SUV39H2) | ENSP00000319208.5:n.*895A>G | |
| ENST00000358298.6:c.1425A>G (SUV39H2) | ||
| ENST00000378289.8:c.1157-4095T>C (DCLRE1C) | ENSP00000367538.4:n.1157-4095T>C | |
| ENST00000378331.5:c.*1844A>G (SUV39H2) | ENSP00000367582.5:n.*1844A>G | |
| NM_001193424.1:c.*895A>G (SUV39H2) | NP_001180353.1:n.*895A>G | |
| NM_001193425.1:c.*895A>G (SUV39H2) | NP_001180354.1:n.*895A>G | |
| NM_001193426.1:c.*895A>G (SUV39H2) | NP_001180355.1:n.*895A>G | |
| NM_001193427.1:c.*895A>G (SUV39H2) | NP_001180356.1:n.*895A>G | |
| NM_024670.3:c.*895A>G (SUV39H2) | NP_078946.1:n.*895A>G | |
| NR_034181.1:n.2088A>G (SUV39H2) | ||
| NM_001350965.1:c.1783-4095T>C (DCLRE1C) | NP_001337894.1:n.1783-4095T>C | |
| NM_001350966.1:c.1438-4095T>C (DCLRE1C) | NP_001337895.1:n.1438-4095T>C | |
| NM_001350967.1:c.1423-4095T>C (DCLRE1C) | NP_001337896.1:n.1423-4095T>C | |
| NR_146960.1:n.2150-4095T>C (DCLRE1C) | ||
| XM_006717503.3:c.*895A>G (SUV39H2) | XP_006717566.1:n.*895A>G | |
| XM_011519662.2:c.*895A>G (SUV39H2) | XP_011517964.1:n.*895A>G | |
| XM_017016637.1:c.*895A>G (SUV39H2) | XP_016872126.1:n.*895A>G | |
| XM_024448135.1:c.1438-4095T>C (DCLRE1C) | XP_024303903.1:n.1438-4095T>C | |
| NM_001193424.2:c.*895A>G (SUV39H2) MANE Select | NP_001180353.1:n.*895A>G | |
| NM_001350965.2:c.1783-4095T>C (DCLRE1C) | NP_001337894.1:n.1783-4095T>C | |
| NM_001350966.2:c.1438-4095T>C (DCLRE1C) | NP_001337895.1:n.1438-4095T>C | |
| NM_001350967.2:c.1423-4095T>C (DCLRE1C) | NP_001337896.1:n.1423-4095T>C | |
| NM_001193425.2:c.*895A>G (SUV39H2) | NP_001180354.1:n.*895A>G | |
| NM_001193426.2:c.*895A>G (SUV39H2) | NP_001180355.1:n.*895A>G | |
| NM_001193427.2:c.*895A>G (SUV39H2) | NP_001180356.1:n.*895A>G | |
| NM_024670.4:c.*895A>G (SUV39H2) | NP_078946.1:n.*895A>G | |
| NR_034181.2:n.2005A>G (SUV39H2) |