Linked Data
dbSNP Id:
rs752460731
ExAC:
8:87751971 GA / G
gnomAD v2:
8-87751971-GA-G
gnomAD v4:
8-86739743-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739749del , CM000670.2:g.86739749del | GRCh38 |
| NC_000008.10:g.87751977del , CM000670.1:g.87751977del | GRCh37 |
| NC_000008.9:g.87821093del | NCBI36 |
| NG_016980.1:g.8932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-8del MANE Select | ENSP00000316605.5:n.130-8del | |
| ENST00000681746.1:c.130-8del | ENSP00000505959.1:n.130-8del | |
| ENST00000320005.5:c.130-8del | ENSP00000316605.5:n.130-8del | |
| ENST00000519777.1:n.112-8del | ||
| NM_019098.4:c.130-8del | NP_061971.3:n.130-8del | |
| NM_019098.5:c.130-8del MANE Select | NP_061971.3:n.130-8del |