Linked Data
dbSNP Id:
rs761090361
ExAC:
5:37064648 G / A
gnomAD v2:
5-37064648-G-A
gnomAD v4:
5-37064546-G-A
COSMIC:
COSM3615964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064546G>A , CM000667.2:g.37064546G>A | GRCh38 |
| NC_000005.9:g.37064648G>A , CM000667.1:g.37064648G>A | GRCh37 |
| NC_000005.8:g.37100405G>A | NCBI36 |
| NG_006987.1:g.192664G>A | |
| NG_006987.2:g.192664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8069G>A (NIPBL) MANE Select | ENSP00000282516.8:p.Arg2690Gln | |
| ENST00000652901.1:c.*13G>A (NIPBL) | ENSP00000499536.1:n.*13G>A | |
| ENST00000282516.12:c.8069G>A (NIPBL) | ENSP00000282516.8:p.Arg2690Gln | |
| ENST00000514335.1:n.1992G>A (NIPBL) | ||
| ENST00000621733.1:c.1-32G>A (NIPBL) | ENSP00000480694.1:n.1-32G>A | |
| NM_015384.4:c.*523G>A (NIPBL) | NP_056199.2:n.*523G>A | |
| NM_133433.3:c.8069G>A (NIPBL) | NP_597677.2:p.Arg2690Gln | |
| XM_005248280.2:c.*13G>A (NIPBL) | XP_005248337.1:n.*13G>A | |
| XM_005248282.3:c.7325G>A (NIPBL) | XP_005248339.2:p.Arg2442Gln | |
| XM_006714467.2:c.7922G>A (NIPBL) | XP_006714530.1:p.Arg2641Gln | |
| XM_006714468.1:c.7871G>A (NIPBL) | XP_006714531.1:p.Arg2624Gln | |
| XM_011514014.1:c.7688G>A (NIPBL) | XP_011512316.1:p.Arg2563Gln | |
| XM_005248280.3:c.*13G>A (NIPBL) | XP_005248337.1:n.*13G>A | |
| XM_005248282.5:c.7409G>A (NIPBL) | XP_005248339.3:p.Arg2470Gln | |
| XM_006714468.2:c.7871G>A (NIPBL) | XP_006714531.1:p.Arg2624Gln | |
| XM_017009329.1:c.*13G>A (NIPBL) | XP_016864818.1:n.*13G>A | |
| XM_017009330.2:c.6452G>A (NIPBL) | XP_016864819.1:p.Arg2151Gln | |
| XM_017009331.1:c.6443G>A (NIPBL) | XP_016864820.1:p.Arg2148Gln | |
| XR_925644.2:n.12136C>T (CPLANE1) | ||
| NM_133433.4:c.8069G>A (NIPBL) MANE Select | NP_597677.2:p.Arg2690Gln | |
| NM_015384.5:c.*523G>A (NIPBL) | NP_056199.2:n.*523G>A |