Linked Data
dbSNP Id:
rs1554849414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781861del , CM000672.2:g.94781861del | GRCh38 |
| NC_000010.10:g.96541618del , CM000672.1:g.96541618del | GRCh37 |
| NC_000010.9:g.96531608del | NCBI36 |
| NG_008384.2:g.24156del | |
| NG_008384.3:g.24181del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.683del MANE Select | ENSP00000360372.3:p.Gly228GlufsTer21 | |
| ENST00000645461.1:n.1736del | ||
| ENST00000371321.7:c.683del | ENSP00000360372.3:p.Gly228GlufsTer21 | |
| ENST00000464755.1:c.1446del | ENSP00000483243.1:n.1446del | |
| NM_000769.2:c.683del | NP_000760.1:p.Gly228GlufsTer21 | |
| NM_000769.4:c.683del MANE Select | NP_000760.1:p.Gly228GlufsTer21 |