Linked Data
dbSNP Id:
rs1862758451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045048_5045050dup , CM000674.2:g.5045048_5045050dup | GRCh38 |
| NC_000012.11:g.5154214_5154216dup , CM000674.1:g.5154214_5154216dup | GRCh37 |
| NC_000012.10:g.5024475_5024477dup | NCBI36 |
| NG_012198.1:g.6130_6132dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.901_903dup MANE Select | ENSP00000252321.3:p.Ser301_Gly302insSer | |
| ENST00000252321.4:c.901_903dup | ENSP00000252321.3:p.Ser301_Gly302insSer | |
| NM_002234.3:c.901_903dup | NP_002225.2:p.Ser301_Gly302insSer | |
| NM_002234.4:c.901_903dup MANE Select | NP_002225.2:p.Ser301_Gly302insSer |