Linked Data
dbSNP Id:
rs1160657964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047839_23047840dup , CM000682.2:g.23047839_23047840dup | GRCh38 |
| NC_000020.10:g.23028476_23028477dup , CM000682.1:g.23028476_23028477dup | GRCh37 |
| NC_000020.9:g.22976476_22976477dup | NCBI36 |
| NG_012027.1:g.6825_6826dup , LRG_168:g.6825_6826dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1665_1666dup MANE Select | ENSP00000366307.2:p.Ala556GlyfsTer7 | |
| ENST00000377103.2:c.1665_1666dup | ENSP00000366307.2:p.Ala556GlyfsTer7 | |
| NM_000361.2:c.1665_1666dup , LRG_168t1:c.1665_1666dup | NP_000352.1:p.Ala556GlyfsTer7 | |
| NM_000361.3:c.1665_1666dup MANE Select | NP_000352.1:p.Ala556GlyfsTer7 |