Linked Data
dbSNP Id:
rs754949542
ExAC:
5:37064812 A / C
gnomAD v2:
5-37064812-A-C
gnomAD v3:
5-37064710-A-C
gnomAD v4:
5-37064710-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064710A>C , CM000667.2:g.37064710A>C | GRCh38 |
| NC_000005.9:g.37064812A>C , CM000667.1:g.37064812A>C | GRCh37 |
| NC_000005.8:g.37100569A>C | NCBI36 |
| NG_006987.1:g.192828A>C | |
| NG_006987.2:g.192828A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8233A>C (NIPBL) MANE Select | ENSP00000282516.8:p.Ser2745Arg | |
| ENST00000652901.1:c.*177A>C (NIPBL) | ENSP00000499536.1:n.*177A>C | |
| ENST00000282516.12:c.8233A>C (NIPBL) | ENSP00000282516.8:p.Ser2745Arg | |
| ENST00000514335.1:n.2156A>C (NIPBL) | ||
| ENST00000621733.1:c.133A>C (NIPBL) | ENSP00000480694.1:p.Ser45Arg | |
| NM_015384.4:c.*687A>C (NIPBL) | NP_056199.2:n.*687A>C | |
| NM_133433.3:c.8233A>C (NIPBL) | NP_597677.2:p.Ser2745Arg | |
| XM_005248280.2:c.*177A>C (NIPBL) | XP_005248337.1:n.*177A>C | |
| XM_005248282.3:c.7489A>C (NIPBL) | XP_005248339.2:p.Ser2497Arg | |
| XM_006714467.2:c.8086A>C (NIPBL) | XP_006714530.1:p.Ser2696Arg | |
| XM_006714468.1:c.8035A>C (NIPBL) | XP_006714531.1:p.Ser2679Arg | |
| XM_011514014.1:c.7852A>C (NIPBL) | XP_011512316.1:p.Ser2618Arg | |
| XM_005248280.3:c.*177A>C (NIPBL) | XP_005248337.1:n.*177A>C | |
| XM_005248282.5:c.7573A>C (NIPBL) | XP_005248339.3:p.Ser2525Arg | |
| XM_006714468.2:c.8035A>C (NIPBL) | XP_006714531.1:p.Ser2679Arg | |
| XM_017009329.1:c.*177A>C (NIPBL) | XP_016864818.1:n.*177A>C | |
| XM_017009330.2:c.6616A>C (NIPBL) | XP_016864819.1:p.Ser2206Arg | |
| XM_017009331.1:c.6607A>C (NIPBL) | XP_016864820.1:p.Ser2203Arg | |
| XR_925644.2:n.11972T>G (CPLANE1) | ||
| NM_133433.4:c.8233A>C (NIPBL) MANE Select | NP_597677.2:p.Ser2745Arg | |
| NM_015384.5:c.*687A>C (NIPBL) | NP_056199.2:n.*687A>C |