Linked Data
dbSNP Id:
rs375382616
gnomAD v2:
12-350982-T-TA
gnomAD v3:
12-241816-T-TA
gnomAD v4:
12-241816-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.241818dup , CM000674.2:g.241818dup | GRCh38 |
| NC_000012.11:g.350984dup , CM000674.1:g.350984dup | GRCh37 |
| NC_000012.10:g.221245dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.478+797dup MANE Select | ENSP00000339260.4:n.478+797dup | |
| ENST00000343164.8:c.478+797dup | ENSP00000339260.4:n.478+797dup | |
| ENST00000445055.6:c.203-3807dup | ENSP00000407104.2:n.203-3807dup | |
| ENST00000536842.5:n.531+797dup | ||
| ENST00000539260.1:c.*117+797dup | ENSP00000437386.1:n.*117+797dup | |
| ENST00000542272.5:c.121+797dup | ENSP00000443466.1:n.121+797dup | |
| ENST00000546319.5:c.203-3807dup | ENSP00000444606.1:n.203-3807dup | |
| NM_001190997.2:c.203-3807dup | NP_001177926.1:n.203-3807dup | |
| NM_016615.4:c.478+797dup | NP_057699.2:n.478+797dup | |
| XM_005253749.2:c.544+797dup | XP_005253806.1:n.544+797dup | |
| XM_011521012.1:c.121+797dup | XP_011519314.1:n.121+797dup | |
| XM_011521013.1:c.-182+797dup | XP_011519315.1:n.-182+797dup | |
| XM_011521014.1:c.-182+797dup | XP_011519316.1:n.-182+797dup | |
| XM_011521012.2:c.121+797dup | XP_011519314.1:n.121+797dup | |
| XM_017019844.1:c.478+797dup | XP_016875333.1:n.478+797dup | |
| XM_017019846.1:c.478+797dup | XP_016875335.1:n.478+797dup | |
| XM_017019847.1:c.478+797dup | XP_016875336.1:n.478+797dup | |
| XR_001748849.1:n.531+797dup | ||
| XR_002957372.1:n.531+797dup | ||
| NM_016615.5:c.478+797dup MANE Select | NP_057699.2:n.478+797dup | |
| NM_001190997.3:c.203-3807dup | NP_001177926.1:n.203-3807dup |