Linked Data
dbSNP Id:
rs1948141795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312619_118312620insC , CM000673.2:g.118312619_118312620insC | GRCh38 |
| NC_000011.9:g.118183334_118183335insC , CM000673.1:g.118183334_118183335insC | GRCh37 |
| NC_000011.8:g.117688544_117688545insC | NCBI36 |
| NG_007383.1:g.13040_13041insC , LRG_38:g.13040_13041insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.105_106insC MANE Select | ENSP00000354566.4:p.Tyr36LeufsTer2 | |
| ENST00000361763.8:c.105_106insC | ENSP00000354566.4:p.Tyr36LeufsTer2 | |
| ENST00000526146.5:n.651_652insC | ||
| ENST00000528435.5:n.658_659insC | ||
| ENST00000528600.1:c.87_88insC | ENSP00000433975.1:p.Tyr30LeufsTer2 | |
| ENST00000529713.5:n.211_212insC | ||
| ENST00000531913.1:n.476_477insC | ||
| NM_000733.3:c.105_106insC , LRG_38t1:c.105_106insC | NP_000724.1:p.Tyr36LeufsTer2 | |
| NM_000733.4:c.105_106insC MANE Select | NP_000724.1:p.Tyr36LeufsTer2 |