Linked Data
dbSNP Id:
rs758475270
ExAC:
1:168262348 CT / C
gnomAD v2:
1-168262348-CT-C
gnomAD v4:
1-168293110-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293114del , CM000663.2:g.168293114del | GRCh38 |
| NC_000001.10:g.168262352del , CM000663.1:g.168262352del | GRCh37 |
| NC_000001.9:g.166528976del | NCBI36 |
| NG_008244.1:g.17075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.469-30del MANE Select | ENSP00000356795.3:n.469-30del | |
| ENST00000367821.7:c.469-30del | ENSP00000356795.3:n.469-30del | |
| ENST00000431969.5:c.266-30del | ||
| NM_005149.2:c.469-30del | NP_005140.1:n.469-30del | |
| NM_005149.3:c.469-30del MANE Select | NP_005140.1:n.469-30del |