Linked Data
ClinVar Variation Id:
1166602
ClinVar RCV Id:
RCV001514990
dbSNP Id:
rs761900678
ExAC:
12:13722960 G / GA
gnomAD v2:
12-13722960-G-GA
gnomAD v4:
12-13570026-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13570032dup , CM000674.2:g.13570032dup | GRCh38 |
| NC_000012.11:g.13722966dup , CM000674.1:g.13722966dup | GRCh37 |
| NC_000012.10:g.13614233dup | NCBI36 |
| NG_031854.1:g.415062dup | |
| NG_031854.2:g.416986dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.2172-10dup MANE Select | ENSP00000477455.1:n.2172-10dup | |
| ENST00000628166.2:n.432-10dup | ||
| ENST00000637214.1:c.69+38576dup | ENSP00000489997.1:n.69+38576dup | |
| ENST00000609686.3:c.2172-10dup | ENSP00000477455.1:n.2172-10dup | |
| ENST00000628166.1:n.432-10dup | ||
| NM_000834.3:c.2172-10dup | NP_000825.2:n.2172-10dup | |
| XM_005253351.2:c.-43-10dup | XP_005253408.1:n.-43-10dup | |
| XM_011520628.1:c.2172-10dup | XP_011518930.1:n.2172-10dup | |
| XM_011520629.1:c.2172-10dup | XP_011518931.1:n.2172-10dup | |
| XM_011520630.1:c.2172-10dup | XP_011518932.1:n.2172-10dup | |
| NM_000834.4:c.2172-10dup | NP_000825.2:n.2172-10dup | |
| XM_005253351.3:c.-43-10dup | XP_005253408.1:n.-43-10dup | |
| XM_011520628.2:c.2172-10dup | XP_011518930.1:n.2172-10dup | |
| XM_011520629.2:c.2172-10dup | XP_011518931.1:n.2172-10dup | |
| XM_017019219.2:c.2172-10dup | XP_016874708.1:n.2172-10dup | |
| NM_000834.5:c.2172-10dup MANE Select | NP_000825.2:n.2172-10dup |