Linked Data
dbSNP Id:
rs761384002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178456_21178460dup , CM000674.2:g.21178456_21178460dup | GRCh38 |
| NC_000012.11:g.21331390_21331394dup , CM000674.1:g.21331390_21331394dup | GRCh37 |
| NC_000012.10:g.21222657_21222661dup | NCBI36 |
| NG_011745.1:g.52263_52267dup , LRG_1022:g.52263_52267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.482-120_482-116dup MANE Select | ENSP00000256958.2:n.482-120_482-116dup | |
| ENST00000256958.2:c.482-120_482-116dup | ENSP00000256958.2:n.482-120_482-116dup | |
| NM_006446.4:c.482-120_482-116dup , LRG_1022t1:c.482-120_482-116dup | NP_006437.3:n.482-120_482-116dup | |
| NM_006446.5:c.482-120_482-116dup MANE Select | NP_006437.3:n.482-120_482-116dup |