Linked Data
dbSNP Id:
rs1645807884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429902dup , CM000663.2:g.68429902dup | GRCh38 |
| NC_000001.10:g.68895585dup , CM000663.1:g.68895585dup | GRCh37 |
| NC_000001.9:g.68668173dup | NCBI36 |
| NG_008472.1:g.25060dup | |
| NG_008472.2:g.25060dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1478dup MANE Select | ENSP00000262340.5:p.Gly494ArgfsTer19 | |
| ENST00000262340.5:c.1478dup | ENSP00000262340.5:p.Gly494ArgfsTer19 | |
| NM_000329.2:c.1478dup | NP_000320.1:p.Gly494ArgfsTer19 | |
| XM_017002027.1:c.1202dup | XP_016857516.1:p.Gly402ArgfsTer19 | |
| NM_000329.3:c.1478dup MANE Select | NP_000320.1:p.Gly494ArgfsTer19 |