Linked Data
dbSNP Id:
rs1024407158
gnomAD v2:
1-193220570-A-AT
gnomAD v3:
1-193251440-A-AT
gnomAD v4:
1-193251440-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251446dup , CM000663.2:g.193251446dup | GRCh38 |
| NC_000001.10:g.193220576dup , CM000663.1:g.193220576dup | GRCh37 |
| NC_000001.9:g.191487199dup | NCBI36 |
| NG_012691.1:g.134489dup , LRG_507:g.134489dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*734dup MANE Select | ENSP00000356405.4:n.*734dup | |
| ENST00000635846.1:c.*734dup | ENSP00000490035.1:n.*734dup | |
| ENST00000643006.1:c.*1240dup | ENSP00000496633.1:n.*1240dup | |
| ENST00000367435.3:c.*734dup | ENSP00000356405.3:n.*734dup | |
| NM_024529.4:c.*734dup , LRG_507t1:c.*734dup | NP_078805.3:n.*734dup | |
| NM_024529.5:c.*734dup MANE Select | NP_078805.3:n.*734dup |