Linked Data
dbSNP Id:
rs1554916367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045297_114045298delinsC , CM000672.2:g.114045297_114045298delinsC | GRCh38 |
| NC_000010.10:g.115805056_115805057delinsC , CM000672.1:g.115805056_115805057delinsC | GRCh37 |
| NC_000010.9:g.115795046_115795047delinsC | NCBI36 |
| NG_012187.1:g.6251_6252delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1165_1166delinsC MANE Select | ENSP00000358301.2:p.Gly389HisfsTer? | |
| ENST00000369295.3:c.1165_1166delinsC | ENSP00000358301.2:p.Gly389HisfsTer? | |
| NM_000684.2:c.1165_1166delinsC | NP_000675.1:p.Gly389HisfsTer? | |
| NM_000684.3:c.1165_1166delinsC MANE Select | NP_000675.1:p.Gly389HisfsTer? |