Linked Data
dbSNP Id:
rs779883508
ExAC:
5:37064771 C / G
gnomAD v2:
5-37064771-C-G
gnomAD v4:
5-37064669-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37064669C>G , CM000667.2:g.37064669C>G | GRCh38 |
| NC_000005.9:g.37064771C>G , CM000667.1:g.37064771C>G | GRCh37 |
| NC_000005.8:g.37100528C>G | NCBI36 |
| NG_006987.1:g.192787C>G | |
| NG_006987.2:g.192787C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.8192C>G (NIPBL) MANE Select | ENSP00000282516.8:p.Thr2731Ser | |
| ENST00000652901.1:c.*136C>G (NIPBL) | ENSP00000499536.1:n.*136C>G | |
| ENST00000282516.12:c.8192C>G (NIPBL) | ENSP00000282516.8:p.Thr2731Ser | |
| ENST00000514335.1:n.2115C>G (NIPBL) | ||
| ENST00000621733.1:c.92C>G (NIPBL) | ENSP00000480694.1:p.Thr31Ser | |
| NM_015384.4:c.*646C>G (NIPBL) | NP_056199.2:n.*646C>G | |
| NM_133433.3:c.8192C>G (NIPBL) | NP_597677.2:p.Thr2731Ser | |
| XM_005248280.2:c.*136C>G (NIPBL) | XP_005248337.1:n.*136C>G | |
| XM_005248282.3:c.7448C>G (NIPBL) | XP_005248339.2:p.Thr2483Ser | |
| XM_006714467.2:c.8045C>G (NIPBL) | XP_006714530.1:p.Thr2682Ser | |
| XM_006714468.1:c.7994C>G (NIPBL) | XP_006714531.1:p.Thr2665Ser | |
| XM_011514014.1:c.7811C>G (NIPBL) | XP_011512316.1:p.Thr2604Ser | |
| XM_005248280.3:c.*136C>G (NIPBL) | XP_005248337.1:n.*136C>G | |
| XM_005248282.5:c.7532C>G (NIPBL) | XP_005248339.3:p.Thr2511Ser | |
| XM_006714468.2:c.7994C>G (NIPBL) | XP_006714531.1:p.Thr2665Ser | |
| XM_017009329.1:c.*136C>G (NIPBL) | XP_016864818.1:n.*136C>G | |
| XM_017009330.2:c.6575C>G (NIPBL) | XP_016864819.1:p.Thr2192Ser | |
| XM_017009331.1:c.6566C>G (NIPBL) | XP_016864820.1:p.Thr2189Ser | |
| XR_925644.2:n.12013G>C (CPLANE1) | ||
| NM_133433.4:c.8192C>G (NIPBL) MANE Select | NP_597677.2:p.Thr2731Ser | |
| NM_015384.5:c.*646C>G (NIPBL) | NP_056199.2:n.*646C>G |