Linked Data
dbSNP Id:
rs2048668462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004633dup , CM000685.2:g.25004633dup | GRCh38 |
| NC_000023.10:g.25022750dup , CM000685.1:g.25022750dup | GRCh37 |
| NC_000023.9:g.24932671dup | NCBI36 |
| NG_008281.1:g.16316dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.*37dup MANE Select | ENSP00000368332.4:n.*37dup | |
| ENST00000379044.4:c.*37dup | ENSP00000368332.4:n.*37dup | |
| NM_139058.2:c.*37dup | NP_620689.1:n.*37dup | |
| NM_139058.3:c.*37dup MANE Select | NP_620689.1:n.*37dup |