Linked Data
ClinVar Variation Id:
2926687
ClinVar RCV Id:
RCV003788925
dbSNP Id:
rs767459487
ExAC:
15:48782036 G / GT
gnomAD v2:
15-48782036-G-GT
gnomAD v3:
15-48489839-G-GT
gnomAD v4:
15-48489839-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489840dup , CM000677.2:g.48489840dup | GRCh38 |
| NC_000015.9:g.48782037dup , CM000677.1:g.48782037dup | GRCh37 |
| NC_000015.8:g.46569329dup | NCBI36 |
| NG_008805.2:g.160949dup , LRG_778:g.160949dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3082+11dup | ENSP00000453958.2:n.3082+11dup | |
| ENST00000674301.2:c.3082+11dup | ENSP00000501333.2:n.3082+11dup | |
| ENST00000684448.1:n.1756+11dup | ||
| ENST00000316623.10:c.3082+11dup MANE Select | ENSP00000325527.5:n.3082+11dup | |
| ENST00000316623.9:c.3082+11dup | ENSP00000325527.5:n.3082+11dup | |
| ENST00000537463.6:c.637-15190dup | ENSP00000440294.2:n.637-15190dup | |
| NM_000138.4:c.3082+11dup , LRG_778t1:c.3082+11dup | NP_000129.3:n.3082+11dup | |
| NM_000138.5:c.3082+11dup MANE Select | NP_000129.3:n.3082+11dup |