Linked Data
dbSNP Id:
rs761868094
ExAC:
4:4864396 AC / A
gnomAD v2:
4-4864396-AC-A
gnomAD v4:
4-4862669-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862673del , CM000666.2:g.4862673del | GRCh38 |
| NC_000004.11:g.4864400del , CM000666.1:g.4864400del | GRCh37 |
| NC_000004.10:g.4915301del | NCBI36 |
| NG_008121.1:g.8009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-28del MANE Select | ENSP00000372170.4:n.470-28del | |
| ENST00000382723.4:c.470-28del | ENSP00000372170.4:n.470-28del | |
| ENST00000468421.1:n.182-28del | ||
| NM_002448.3:c.470-28del MANE Select | NP_002439.2:n.470-28del |