Linked Data
dbSNP Id:
rs145888147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337058_32337061dup , CM000669.2:g.32337058_32337061dup | GRCh38 |
| NC_000007.13:g.32376670_32376673dup , CM000669.1:g.32376670_32376673dup | GRCh37 |
| NC_000007.12:g.32343195_32343198dup | NCBI36 |
| NG_051183.1:g.96178_96181dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90775_310+90778dup | ENSP00000499831.1:n.310+90775_310+90778dup | |
| NM_001322059.1:c.310+90775_310+90778dup | NP_001308988.1:n.310+90775_310+90778dup | |
| NM_001322059.2:c.310+90775_310+90778dup | NP_001308988.1:n.310+90775_310+90778dup |