Linked Data
dbSNP Id:
rs2137506300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924499del , CM000675.2:g.27924499del | GRCh38 |
| NC_000013.10:g.28498636del , CM000675.1:g.28498636del | GRCh37 |
| NC_000013.9:g.27396636del | NCBI36 |
| NG_008183.1:g.9469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.650del MANE Select | ENSP00000370421.4:p.Gly217ValfsTer13 | |
| ENST00000381033.4:c.650del | ENSP00000370421.4:p.Gly217ValfsTer13 | |
| NM_000209.3:c.650del | NP_000200.1:p.Gly217ValfsTer13 | |
| NM_000209.4:c.650del MANE Select | NP_000200.1:p.Gly217ValfsTer13 |