Linked Data
COSMIC:
COSM6050245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123773_72123774insGT , CM000679.2:g.72123773_72123774insGT | GRCh38 |
| NC_000017.10:g.70119914_70119915insGT , CM000679.1:g.70119914_70119915insGT | GRCh37 |
| NC_000017.9:g.67631509_67631510insGT | NCBI36 |
| NG_012490.1:g.7754_7755insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.916_917insGT MANE Select | ENSP00000245479.2:p.Val306GlyfsTer? | |
| ENST00000245479.2:c.916_917insGT | ENSP00000245479.2:p.Val306GlyfsTer? | |
| NM_000346.3:c.916_917insGT | NP_000337.1:p.Val306GlyfsTer? | |
| NM_000346.4:c.916_917insGT MANE Select | NP_000337.1:p.Val306GlyfsTer? |