Linked Data
dbSNP Id:
rs575240461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888327_20888356dup , CM000684.2:g.20888327_20888356dup | GRCh38 |
| NC_000022.10:g.21242615_21242644dup , CM000684.1:g.21242615_21242644dup | GRCh37 |
| NC_000022.9:g.19572615_19572644dup | NCBI36 |
| NG_012152.1:g.34324_34353dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*491_*520dup MANE Select | ENSP00000215730.6:n.*491_*520dup | |
| ENST00000215730.11:c.*491_*520dup | ENSP00000215730.6:n.*491_*520dup | |
| NM_004782.3:c.*491_*520dup | NP_004773.1:n.*491_*520dup | |
| NM_004782.4:c.*491_*520dup MANE Select | NP_004773.1:n.*491_*520dup |