Linked Data
dbSNP Id:
rs1191386977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213583dup , CM000667.2:g.1213583dup | GRCh38 |
| NC_000005.9:g.1213698dup , CM000667.1:g.1213698dup | GRCh37 |
| NC_000005.8:g.1266698dup | NCBI36 |
| NG_008282.1:g.16989dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+10dup MANE Select | ENSP00000305302.10:n.774+10dup | |
| ENST00000304460.10:c.774+10dup | ENSP00000305302.10:n.774+10dup | |
| ENST00000515652.5:c.682+10dup | ENSP00000425701.1:n.682+10dup | |
| NM_001003841.2:c.774+10dup | NP_001003841.1:n.774+10dup | |
| NM_001003841.3:c.774+10dup MANE Select | NP_001003841.1:n.774+10dup |