Linked Data
dbSNP Id:
rs2135457894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243604_72243605dup , CM000673.2:g.72243604_72243605dup | GRCh38 |
| NC_000011.9:g.71954648_71954649dup , CM000673.1:g.71954648_71954649dup | GRCh37 |
| NC_000011.8:g.71632296_71632297dup | NCBI36 |
| NG_008169.1:g.5576_5577dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+187_217+188dup MANE Select | ENSP00000298231.5:n.217+187_217+188dup | |
| ENST00000544057.1:n.85+1979_85+1980dup | ||
| NM_005169.3:c.217+187_217+188dup | NP_005160.2:n.217+187_217+188dup | |
| NM_005169.4:c.217+187_217+188dup MANE Select | NP_005160.2:n.217+187_217+188dup |