Linked Data
ClinVar Variation Id:
360250
dbSNP Id:
rs200073401
ExAC:
7:42079851 C / CA
gnomAD v2:
7-42079851-C-CA
gnomAD v3:
7-42040252-C-CA
gnomAD v4:
7-42040252-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42040258dup , CM000669.2:g.42040258dup | GRCh38 |
| NC_000007.13:g.42079857dup , CM000669.1:g.42079857dup | GRCh37 |
| NC_000007.12:g.42046382dup | NCBI36 |
| NG_008434.1:g.201767dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.827-14dup MANE Select | ENSP00000379258.3:n.827-14dup | |
| ENST00000677288.1:c.650-14dup | ENSP00000503986.1:n.650-14dup | |
| ENST00000677605.1:c.827-14dup | ENSP00000503743.1:n.827-14dup | |
| ENST00000678429.1:c.827-14dup | ENSP00000502957.1:n.827-14dup | |
| ENST00000395925.7:c.827-14dup | ENSP00000379258.3:n.827-14dup | |
| ENST00000479210.1:n.804-14dup | ||
| NM_000168.5:c.827-14dup | NP_000159.3:n.827-14dup | |
| XM_005249703.1:c.827-14dup | XP_005249760.1:n.827-14dup | |
| XM_005249704.2:c.827-14dup | XP_005249761.1:n.827-14dup | |
| XM_011515272.1:c.827-14dup | XP_011513574.1:n.827-14dup | |
| XM_011515273.1:c.827-14dup | XP_011513575.1:n.827-14dup | |
| XM_011515274.1:c.650-14dup | XP_011513576.1:n.650-14dup | |
| XM_011515274.2:c.650-14dup | XP_011513576.1:n.650-14dup | |
| XM_017011997.1:c.824-14dup | XP_016867486.1:n.824-14dup | |
| NM_000168.6:c.827-14dup MANE Select | NP_000159.3:n.827-14dup |