Linked Data
dbSNP Id:
rs2145105252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40098969dup , CM000679.2:g.40098969dup | GRCh38 |
| NC_000017.10:g.38255222dup , CM000679.1:g.38255222dup | GRCh37 |
| NC_000017.9:g.35508748dup | NCBI36 |
| NG_033084.1:g.6757dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.31+1095dup MANE Select | ENSP00000246672.3:n.31+1095dup | |
| ENST00000246672.3:c.31+1095dup | ENSP00000246672.3:n.31+1095dup | |
| NM_021724.4:c.31+1095dup | NP_068370.1:n.31+1095dup | |
| NM_021724.5:c.31+1095dup MANE Select | NP_068370.1:n.31+1095dup |