Linked Data
dbSNP Id:
rs1161040353
gnomAD v2:
15-48830032-G-GA
gnomAD v3:
15-48537835-G-GA
gnomAD v4:
15-48537835-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537839dup , CM000677.2:g.48537839dup | GRCh38 |
| NC_000015.9:g.48830036dup , CM000677.1:g.48830036dup | GRCh37 |
| NC_000015.8:g.46617328dup | NCBI36 |
| NG_008805.2:g.112953dup , LRG_778:g.112953dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.539-28dup | ENSP00000453958.2:n.539-28dup | |
| ENST00000674301.2:c.539-28dup | ENSP00000501333.2:n.539-28dup | |
| ENST00000316623.10:c.539-28dup MANE Select | ENSP00000325527.5:n.539-28dup | |
| ENST00000316623.9:c.539-28dup | ENSP00000325527.5:n.539-28dup | |
| ENST00000537463.6:c.539-28dup | ENSP00000440294.2:n.539-28dup | |
| NM_000138.4:c.539-28dup , LRG_778t1:c.539-28dup | NP_000129.3:n.539-28dup | |
| NM_000138.5:c.539-28dup MANE Select | NP_000129.3:n.539-28dup |