Linked Data
dbSNP Id:
rs1984611500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047802_23047810dup , CM000682.2:g.23047802_23047810dup | GRCh38 |
| NC_000020.10:g.23028439_23028447dup , CM000682.1:g.23028439_23028447dup | GRCh37 |
| NC_000020.9:g.22976439_22976447dup | NCBI36 |
| NG_012027.1:g.6857_6865dup , LRG_168:g.6857_6865dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1697_1705dup MANE Select | ENSP00000366307.2:p.Thr568_Glu569insValArgThr | |
| ENST00000377103.2:c.1697_1705dup | ENSP00000366307.2:p.Thr568_Glu569insValArgThr | |
| NM_000361.2:c.1697_1705dup , LRG_168t1:c.1697_1705dup | NP_000352.1:p.Thr568_Glu569insValArgThr | |
| NM_000361.3:c.1697_1705dup MANE Select | NP_000352.1:p.Thr568_Glu569insValArgThr |