Linked Data
dbSNP Id:
rs2040505279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288648dup , CM000683.2:g.44288648dup | GRCh38 |
| NC_000021.8:g.45708531dup , CM000683.1:g.45708531dup | GRCh37 |
| NC_000021.7:g.44532959dup | NCBI36 |
| NG_009556.1:g.7769dup , LRG_18:g.7769dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+190dup MANE Select | ENSP00000291582.5:n.652+190dup | |
| ENST00000291582.5:c.652+190dup | ENSP00000291582.5:n.652+190dup | |
| ENST00000527919.5:n.1196+190dup | ||
| ENST00000530812.5:n.1394dup | ||
| NM_000383.3:c.652+190dup | NP_000374.1:n.652+190dup | |
| XM_011529551.1:c.652+190dup | XP_011527853.1:n.652+190dup | |
| NM_000383.4:c.652+190dup MANE Select | NP_000374.1:n.652+190dup |