Linked Data
dbSNP Id:
rs781592824
ExAC:
3:8787566 C / CA
gnomAD v2:
3-8787566-C-CA
gnomAD v4:
3-8745880-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745882dup , CM000665.2:g.8745882dup | GRCh38 |
| NC_000003.11:g.8787568dup , CM000665.1:g.8787568dup | GRCh37 |
| NC_000003.10:g.8762568dup | NCBI36 |
| NG_008797.2:g.17073dup , LRG_329:g.17073dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.*15dup MANE Select | ENSP00000341940.2:n.*15dup | |
| ENST00000343849.2:c.*15dup | ENSP00000341940.2:n.*15dup | |
| ENST00000397368.2:c.*6+9dup | ENSP00000380525.2:n.*6+9dup | |
| ENST00000472766.1:n.155+11892dup | ||
| NM_001234.4:c.*6+9dup | NP_001225.1:n.*6+9dup | |
| NM_033337.2:c.*15dup , LRG_329t1:c.*15dup | NP_203123.1:n.*15dup | |
| NM_001234.5:c.*6+9dup | NP_001225.1:n.*6+9dup | |
| NM_033337.3:c.*15dup MANE Select | NP_203123.1:n.*15dup |