Linked Data
dbSNP Id:
rs1761145256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269757dup , CM000668.2:g.31269757dup | GRCh38 |
| NC_000006.11:g.31237534dup , CM000668.1:g.31237534dup | GRCh37 |
| NC_000006.10:g.31345513dup | NCBI36 |
| NG_029422.2:g.7378dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1015+212dup MANE Select | ENSP00000365402.5:n.1015+212dup | |
| ENST00000376228.9:c.1015+212dup | ENSP00000365402.5:n.1015+212dup | |
| ENST00000376237.8:c.*602+212dup | ENSP00000365412.4:n.*602+212dup | |
| ENST00000383329.7:c.1016-211dup | ENSP00000372819.3:n.1016-211dup | |
| ENST00000470363.5:n.545dup | ||
| ENST00000487245.5:n.1374+212dup | ||
| NM_002117.5:c.1015+212dup | NP_002108.4:n.1015+212dup | |
| NM_002117.6:c.1015+212dup MANE Select | NP_002108.4:n.1015+212dup |