Linked Data
dbSNP Id:
rs1975959126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015829_8015830insGTCACGC , CM000679.2:g.8015829_8015830insGTCACGC | GRCh38 |
| NC_000017.10:g.7919147_7919148insGTCACGC , CM000679.1:g.7919147_7919148insGTCACGC | GRCh37 |
| NC_000017.9:g.7859872_7859873insGTCACGC | NCBI36 |
| NG_009092.1:g.18160_18161insGTCACGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3031_3032insGTCACGC MANE Select | ENSP00000254854.4:p.Ser1011CysfsTer? | |
| ENST00000254854.4:c.3031_3032insGTCACGC | ENSP00000254854.4:p.Ser1011CysfsTer? | |
| NM_000180.3:c.3031_3032insGTCACGC | NP_000171.1:p.Ser1011CysfsTer? | |
| XM_011523816.1:c.3031_3032insGTCACGC | XP_011522118.1:p.Ser1011CysfsTer? | |
| NM_000180.4:c.3031_3032insGTCACGC MANE Select | NP_000171.1:p.Ser1011CysfsTer? |