Linked Data
dbSNP Id:
rs1156342787
gnomAD v2:
2-209112849-G-GA
gnomAD v3:
2-208248125-G-GA
gnomAD v4:
2-208248125-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248133dup , CM000664.2:g.208248133dup | GRCh38 |
| NC_000002.11:g.209112857dup , CM000664.1:g.209112857dup | GRCh37 |
| NC_000002.10:g.208821102dup | NCBI36 |
| NG_023319.2:g.22949dup , LRG_610:g.22949dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.414+243dup MANE Select | ENSP00000260985.2:n.414+243dup | |
| ENST00000345146.6:c.414+243dup | ENSP00000260985.2:n.414+243dup | |
| ENST00000415282.5:c.414+243dup | ENSP00000391075.1:n.414+243dup | |
| ENST00000415913.5:c.414+243dup | ENSP00000390265.1:n.414+243dup | |
| ENST00000446179.5:c.414+243dup | ENSP00000410513.1:n.414+243dup | |
| ENST00000462386.5:n.870dup | ||
| NM_001282386.1:c.414+243dup , LRG_610t3:c.414+243dup | NP_001269315.1:n.414+243dup | |
| NM_001282387.1:c.414+243dup , LRG_610t2:c.414+243dup | NP_001269316.1:n.414+243dup | |
| NM_005896.3:c.414+243dup , LRG_610t1:c.414+243dup | NP_005887.2:n.414+243dup | |
| NM_005896.4:c.414+243dup MANE Select | NP_005887.2:n.414+243dup |