Linked Data
dbSNP Id:
rs56380748
gnomAD v3:
1-160881804-G-GAAAAAAAAAAA
gnomAD v4:
1-160881804-G-GAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881815_160881825dup , CM000663.2:g.160881815_160881825dup | GRCh38 |
| NC_000001.10:g.160851605_160851615dup , CM000663.1:g.160851605_160851615dup | GRCh37 |
| NC_000001.9:g.159118229_159118239dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.405+142_405+152dup MANE Select | ENSP00000323587.3:n.405+142_405+152dup | |
| ENST00000326245.3:c.405+142_405+152dup | ENSP00000323587.3:n.405+142_405+152dup | |
| ENST00000464077.1:n.339+142_339+152dup | ||
| NM_017625.2:c.405+142_405+152dup | NP_060095.2:n.405+142_405+152dup | |
| NM_017625.3:c.405+142_405+152dup MANE Select | NP_060095.2:n.405+142_405+152dup |