Linked Data
dbSNP Id:
rs1565747360
gnomAD v2:
12-68643907-C-CA
gnomAD v3:
12-68250127-C-CA
gnomAD v4:
12-68250127-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68250133dup , CM000674.2:g.68250133dup | GRCh38 |
| NC_000012.11:g.68643913dup , CM000674.1:g.68643913dup | GRCh37 |
| NC_000012.10:g.66930180dup | NCBI36 |
| NG_060763.1:g.8477dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.463-1252dup | ENSP00000329384.4:n.463-1252dup | |
| ENST00000538666.6:c.463-1252dup MANE Select | ENSP00000442424.1:n.463-1252dup | |
| ENST00000328087.5:c.463-1252dup | ENSP00000329384.4:n.463-1252dup | |
| ENST00000538666.5:c.463-1252dup | ENSP00000442424.1:n.463-1252dup | |
| NM_020525.4:c.463-1252dup | NP_065386.1:n.463-1252dup | |
| XR_945055.1:n.265-14525dup | ||
| NM_020525.5:c.463-1252dup MANE Select | NP_065386.1:n.463-1252dup | |
| XR_002957418.1:n.281-14525dup |