Linked Data
dbSNP Id:
rs2053365151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516415_75516432dup , CM000679.2:g.75516415_75516432dup | GRCh38 |
| NC_000017.10:g.73512496_73512513dup , CM000679.1:g.73512496_73512513dup | GRCh37 |
| NC_000017.9:g.71024091_71024108dup | NCBI36 |
| NG_013041.1:g.4888_4905dup | |
| NG_033152.1:g.4154_4171dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+29_-83+46dup | ENSP00000406559.4:n.-83+29_-83+46dup | |
| ENST00000679370.1:n.443+29_443+46dup | ||
| ENST00000434205.7:c.-83+29_-83+46dup | ENSP00000406559.3:n.-83+29_-83+46dup | |
| XM_006721821.2:c.-248+29_-248+46dup | XP_006721884.1:n.-248+29_-248+46dup |