Linked Data
dbSNP Id:
rs749762667
ExAC:
4:187118637 A / AT
gnomAD v2:
4-187118637-A-AT
gnomAD v3:
4-186197483-A-AT
gnomAD v4:
4-186197483-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197484dup , CM000666.2:g.186197484dup | GRCh38 |
| NC_000004.11:g.187118638dup , CM000666.1:g.187118638dup | GRCh37 |
| NC_000004.10:g.187355632dup | NCBI36 |
| NG_007965.1:g.10965dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.605-49dup MANE Select | ENSP00000368079.4:n.605-49dup | |
| ENST00000378802.4:c.605-49dup | ENSP00000368079.4:n.605-49dup | |
| ENST00000507209.5:n.1397dup | ||
| NM_207352.3:c.605-49dup | NP_997235.3:n.605-49dup | |
| XM_005262935.2:c.605-49dup | XP_005262992.1:n.605-49dup | |
| XM_006714184.2:c.209-49dup | XP_006714247.1:n.209-49dup | |
| XM_005262935.4:c.605-49dup | XP_005262992.1:n.605-49dup | |
| XM_017008037.1:c.209-49dup | XP_016863526.1:n.209-49dup | |
| NM_207352.4:c.605-49dup MANE Select | NP_997235.3:n.605-49dup |