Linked Data
dbSNP Id:
rs111829323
gnomAD v2:
6-16396503-C-CT
gnomAD v3:
6-16396272-C-CT
gnomAD v4:
6-16396272-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16396279dup , CM000668.2:g.16396279dup | GRCh38 |
| NC_000006.11:g.16396510dup , CM000668.1:g.16396510dup | GRCh37 |
| NC_000006.10:g.16504489dup | NCBI36 |
| NG_011571.1:g.370218dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.-160-67803dup MANE Select | ENSP00000416360.1:n.-160-67803dup | |
| ENST00000244769.8:c.-160-67803dup | ENSP00000244769.3:n.-160-67803dup | |
| ENST00000436367.5:c.-160-67803dup | ENSP00000416360.1:n.-160-67803dup | |
| NM_000332.3:c.-160-67803dup | NP_000323.2:n.-160-67803dup | |
| NM_001128164.1:c.-160-67803dup | NP_001121636.1:n.-160-67803dup | |
| NM_001357857.1:c.-189-67803dup | NP_001344786.1:n.-189-67803dup | |
| NM_001357857.2:c.-189-67803dup | NP_001344786.1:n.-189-67803dup | |
| NM_001128164.2:c.-160-67803dup MANE Select | NP_001121636.1:n.-160-67803dup | |
| NM_000332.4:c.-160-67803dup | NP_000323.2:n.-160-67803dup |