Linked Data
dbSNP Id:
rs1303188702
gnomAD v2:
19-39738671-G-GC
gnomAD v3:
19-39248031-G-GC
gnomAD v4:
19-39248031-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248036dup , CM000681.2:g.39248036dup | GRCh38 |
| NC_000019.9:g.39738676dup , CM000681.1:g.39738676dup | GRCh37 |
| NC_000019.8:g.44430516dup | NCBI36 |
| NG_042193.1:g.1940dup | |
| NG_055295.1:g.5825dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606380.2:c.152-37dup | ENSP00000476098.1:n.152-37dup | |
| ENST00000610963.1:c.151-37dup | ENSP00000481371.1:n.151-37dup | |
| ENST00000616270.4:c.152-37dup | ENSP00000480679.1:n.152-37dup | |
| ENST00000634680.1:c.151+397dup | ENSP00000489240.1:n.151+397dup | |
| ENST00000634967.1:c.152-37dup | ENSP00000489559.1:n.152-37dup | |
| NR_074079.1:n.429-37dup |