Linked Data
dbSNP Id:
rs765596268
ExAC:
6:167754702 C / CT
gnomAD v2:
6-167754702-C-CT
gnomAD v4:
6-167341214-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341214_167341215insT , CM000668.2:g.167341214_167341215insT | GRCh38 |
| NC_000006.11:g.167754702_167754703insT , CM000668.1:g.167754702_167754703insT | GRCh37 |
| NC_000006.10:g.167674692_167674693insT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1314_1315insT MANE Select | ENSP00000239587.5:p.Ala439CysfsTer5 | |
| ENST00000649884.1:c.1095_1096insT | ENSP00000497040.1:p.Ala366CysfsTer5 | |
| ENST00000239587.9:c.1314_1315insT | ENSP00000239587.5:p.Ala439CysfsTer5 | |
| ENST00000515138.1:c.1314_1315insT | ENSP00000424130.1:p.Ala439CysfsTer5 | |
| NM_031949.4:c.1314_1315insT | NP_114155.4:p.Ala439CysfsTer5 | |
| XM_006715572.2:c.1095_1096insT | XP_006715635.1:p.Ala366CysfsTer5 | |
| XM_006715572.4:c.1095_1096insT | XP_006715635.1:p.Ala366CysfsTer5 | |
| NM_031949.5:c.1314_1315insT MANE Select | NP_114155.4:p.Ala439CysfsTer5 |