Linked Data
dbSNP Id:
rs1948870633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060407_219060409del , CM000664.2:g.219060407_219060409del | GRCh38 |
| NC_000002.11:g.219925129_219925131del , CM000664.1:g.219925129_219925131del | GRCh37 |
| NC_000002.10:g.219633373_219633375del | NCBI36 |
| NG_016741.1:g.5113_5115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.64_66del MANE Select | ENSP00000295731.5:p.Val22del | |
| ENST00000295731.6:c.64_66del | ENSP00000295731.5:p.Val22del | |
| NM_002181.3:c.64_66del | NP_002172.2:p.Val22del | |
| NM_002181.4:c.64_66del MANE Select | NP_002172.2:p.Val22del |