Linked Data
dbSNP Id:
rs1836932371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349925_47349927dup , CM000672.2:g.47349925_47349927dup | GRCh38 |
| NC_000010.10:g.48389437_48389439dup , CM000672.1:g.48389437_48389439dup | GRCh37 |
| NC_000010.9:g.48009443_48009445dup | NCBI36 |
| NG_029718.1:g.6555_6557dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1441_1443dup MANE Select | ENSP00000463151.1:p.Asn481_Pro482insAsn | |
| ENST00000584701.1:c.1441_1443dup | ENSP00000463151.1:p.Asn481_Pro482insAsn | |
| NM_002900.2:c.1441_1443dup | NP_002891.1:p.Asn481_Pro482insAsn | |
| NM_002900.3:c.1441_1443dup MANE Select | NP_002891.1:p.Asn481_Pro482insAsn |