Linked Data
dbSNP Id:
rs2057248590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665594_39665596dup , CM000679.2:g.39665594_39665596dup | GRCh38 |
| NC_000017.10:g.37821847_37821849dup , CM000679.1:g.37821847_37821849dup | GRCh37 |
| NC_000017.9:g.35075373_35075375dup | NCBI36 |
| NG_008892.1:g.5249_5251dup , LRG_210:g.5249_5251dup | |
| NG_042278.1:g.2614_2616dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.111-122_111-120dup MANE Select | ENSP00000312624.2:n.111-122_111-120dup | |
| ENST00000309889.2:c.111-122_111-120dup | ENSP00000312624.2:n.111-122_111-120dup | |
| ENST00000578283.1:c.111-122_111-120dup | ENSP00000462787.1:n.111-122_111-120dup | |
| NM_003673.3:c.111-122_111-120dup , LRG_210t1:c.111-122_111-120dup | NP_003664.1:n.111-122_111-120dup | |
| NM_003673.4:c.111-122_111-120dup MANE Select | NP_003664.1:n.111-122_111-120dup |