Linked Data
dbSNP Id:
rs2108750477
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532617_129532618insCT , CM000665.2:g.129532617_129532618insCT | GRCh38 |
| NC_000003.11:g.129251460_129251461insCT , CM000665.1:g.129251460_129251461insCT | GRCh37 |
| NC_000003.10:g.130734150_130734151insCT | NCBI36 |
| NG_009115.1:g.8979_8980insCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.781_782insCT MANE Select | ENSP00000296271.3:p.Phe261SerfsTer3 | |
| ENST00000296271.3:c.781_782insCT | ENSP00000296271.3:p.Phe261SerfsTer3 | |
| NM_000539.3:c.781_782insCT MANE Select | NP_000530.1:p.Phe261SerfsTer3 |