Linked Data
dbSNP Id:
rs748290328
ExAC:
5:37064842 G / A
gnomAD v2:
5-37064842-G-A
gnomAD v3:
5-37064740-G-A
gnomAD v4:
5-37064740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064740G>A , CM000667.2:g.37064740G>A | GRCh38 |
| NC_000005.9:g.37064842G>A , CM000667.1:g.37064842G>A | GRCh37 |
| NC_000005.8:g.37100599G>A | NCBI36 |
| NG_006987.1:g.192858G>A | |
| NG_006987.2:g.192858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8263G>A (NIPBL) MANE Select | ENSP00000282516.8:p.Asp2755Asn | |
| ENST00000652901.1:c.*207G>A (NIPBL) | ENSP00000499536.1:n.*207G>A | |
| ENST00000282516.12:c.8263G>A (NIPBL) | ENSP00000282516.8:p.Asp2755Asn | |
| ENST00000514335.1:n.2186G>A (NIPBL) | ||
| ENST00000621733.1:c.163G>A (NIPBL) | ENSP00000480694.1:p.Asp55Asn | |
| NM_015384.4:c.*717G>A (NIPBL) | NP_056199.2:n.*717G>A | |
| NM_133433.3:c.8263G>A (NIPBL) | NP_597677.2:p.Asp2755Asn | |
| XM_005248280.2:c.*207G>A (NIPBL) | XP_005248337.1:n.*207G>A | |
| XM_005248282.3:c.7519G>A (NIPBL) | XP_005248339.2:p.Asp2507Asn | |
| XM_006714467.2:c.8116G>A (NIPBL) | XP_006714530.1:p.Asp2706Asn | |
| XM_006714468.1:c.8065G>A (NIPBL) | XP_006714531.1:p.Asp2689Asn | |
| XM_011514014.1:c.7882G>A (NIPBL) | XP_011512316.1:p.Asp2628Asn | |
| XM_005248280.3:c.*207G>A (NIPBL) | XP_005248337.1:n.*207G>A | |
| XM_005248282.5:c.7603G>A (NIPBL) | XP_005248339.3:p.Asp2535Asn | |
| XM_006714468.2:c.8065G>A (NIPBL) | XP_006714531.1:p.Asp2689Asn | |
| XM_017009329.1:c.*207G>A (NIPBL) | XP_016864818.1:n.*207G>A | |
| XM_017009330.2:c.6646G>A (NIPBL) | XP_016864819.1:p.Asp2216Asn | |
| XM_017009331.1:c.6637G>A (NIPBL) | XP_016864820.1:p.Asp2213Asn | |
| XR_925644.2:n.11942C>T (CPLANE1) | ||
| NM_133433.4:c.8263G>A (NIPBL) MANE Select | NP_597677.2:p.Asp2755Asn | |
| NM_015384.5:c.*717G>A (NIPBL) | NP_056199.2:n.*717G>A |