Linked Data
dbSNP Id:
rs79867159
ExAC:
12:21794869 C / CT
gnomAD v2:
12-21794869-C-CT
gnomAD v3:
12-21641935-C-CT
gnomAD v4:
12-21641935-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21641945dup , CM000674.2:g.21641945dup | GRCh38 |
| NC_000012.11:g.21794879dup , CM000674.1:g.21794879dup | GRCh37 |
| NC_000012.10:g.21686146dup | NCBI36 |
| NG_017038.1:g.20920dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647960.1:c.595+16dup | ENSP00000497202.1:n.595+16dup | |
| ENST00000673047.2:c.595+16dup | ENSP00000500484.2:n.595+16dup | |
| ENST00000350669.5:c.595+16dup MANE Select | ENSP00000229319.1:n.595+16dup | |
| ENST00000396075.5:c.595+16dup | ENSP00000379385.1:n.595+16dup | |
| ENST00000396076.5:c.595+16dup | ENSP00000379386.1:n.595+16dup | |
| NM_001174097.1:c.595+16dup | NP_001167568.1:n.595+16dup | |
| NM_001174097.2:c.595+16dup | NP_001167568.1:n.595+16dup | |
| NM_001315537.1:c.595+16dup | NP_001302466.1:n.595+16dup | |
| NM_002300.6:c.595+16dup | NP_002291.1:n.595+16dup | |
| NM_002300.7:c.595+16dup | NP_002291.1:n.595+16dup | |
| XM_006719074.2:c.595+16dup | XP_006719137.1:n.595+16dup | |
| NM_001174097.3:c.595+16dup | NP_001167568.1:n.595+16dup | |
| NM_001315537.2:c.595+16dup | NP_001302466.1:n.595+16dup | |
| NM_002300.8:c.595+16dup MANE Select | NP_002291.1:n.595+16dup |