Linked Data
dbSNP Id:
rs1821293913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396545_38396546insC , CM000671.2:g.38396545_38396546insC | GRCh38 |
| NC_000009.11:g.38396542_38396543insC , CM000671.1:g.38396542_38396543insC | GRCh37 |
| NC_000009.10:g.38386542_38386543insC | NCBI36 |
| NG_012253.1:g.8841_8842insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.797_798insC MANE Select | ENSP00000366927.3:p.His268ProfsTer22 | |
| ENST00000377698.3:c.797_798insC | ENSP00000366927.3:p.His268ProfsTer22 | |
| NM_000692.4:c.797_798insC | NP_000683.3:p.His268ProfsTer22 | |
| XM_011517802.1:c.797_798insC | XP_011516104.1:p.His268ProfsTer22 | |
| XM_011517802.2:c.797_798insC | XP_011516104.1:p.His268ProfsTer22 | |
| NM_000692.5:c.797_798insC MANE Select | NP_000683.3:p.His268ProfsTer22 |