Linked Data
dbSNP Id:
rs1940826345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176819del , CM000674.2:g.21176819del | GRCh38 |
| NC_000012.11:g.21329753del , CM000674.1:g.21329753del | GRCh37 |
| NC_000012.10:g.21221020del | NCBI36 |
| NG_011745.1:g.50626del , LRG_1022:g.50626del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.403del MANE Select | ENSP00000256958.2:p.Ser135GlnfsTer9 | |
| ENST00000256958.2:c.403del | ENSP00000256958.2:p.Ser135GlnfsTer9 | |
| ENST00000543498.5:c.469del | ||
| NM_006446.4:c.403del , LRG_1022t1:c.403del | NP_006437.3:p.Ser135GlnfsTer9 | |
| NM_006446.5:c.403del MANE Select | NP_006437.3:p.Ser135GlnfsTer9 |