Linked Data
dbSNP Id:
rs1251375356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174777dup , CM000674.2:g.21174777dup | GRCh38 |
| NC_000012.11:g.21327711dup , CM000674.1:g.21327711dup | GRCh37 |
| NC_000012.10:g.21218978dup | NCBI36 |
| NG_011745.1:g.48584dup , LRG_1022:g.48584dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+68dup MANE Select | ENSP00000256958.2:n.359+68dup | |
| ENST00000256958.2:c.359+68dup | ENSP00000256958.2:n.359+68dup | |
| ENST00000543498.5:c.426-1999dup | ||
| NM_006446.4:c.359+68dup , LRG_1022t1:c.359+68dup | NP_006437.3:n.359+68dup | |
| NM_006446.5:c.359+68dup MANE Select | NP_006437.3:n.359+68dup |