Linked Data
dbSNP Id:
rs868155573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882174_160882175delinsTT , CM000663.2:g.160882174_160882175delinsTT | GRCh38 |
| NC_000001.10:g.160851964_160851965delinsTT , CM000663.1:g.160851964_160851965delinsTT | GRCh37 |
| NC_000001.9:g.159118588_159118589delinsTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.187_188delinsAA MANE Select | ENSP00000323587.3:p.Gly63Asn | |
| ENST00000326245.3:c.187_188delinsAA | ENSP00000323587.3:p.Gly63Asn | |
| ENST00000464077.1:n.121_122delinsAA | ||
| NM_017625.2:c.187_188delinsAA | NP_060095.2:p.Gly63Asn | |
| NM_017625.3:c.187_188delinsAA MANE Select | NP_060095.2:p.Gly63Asn |