Linked Data
dbSNP Id:
rs757886688
ExAC:
12:65563924 C / CT
gnomAD v2:
12-65563924-C-CT
gnomAD v4:
12-65170144-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170145dup , CM000674.2:g.65170145dup | GRCh38 |
| NC_000012.11:g.65563925dup , CM000674.1:g.65563925dup | GRCh37 |
| NC_000012.10:g.63850192dup | NCBI36 |
| NG_016210.1:g.5575dup | |
| NG_016210.2:g.5575dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.549dup MANE Select | ENSP00000308369.2:p.Asn184Ter | |
| ENST00000308330.2:c.549dup | ENSP00000308369.2:p.Asn184Ter | |
| ENST00000541171.1:n.563dup | ||
| NM_001167614.1:c.549dup | NP_001161086.1:p.Asn184Ter | |
| NM_014319.4:c.549dup | NP_055134.2:p.Asn184Ter | |
| NM_014319.5:c.549dup MANE Select | NP_055134.2:p.Asn184Ter | |
| NM_001167614.2:c.549dup | NP_001161086.1:p.Asn184Ter |