Linked Data
dbSNP Id:
rs765395213
ExAC:
17:39742617 GCA / G
gnomAD v2:
17-39742617-GCA-G
gnomAD v3:
17-41586365-GCA-G
gnomAD v4:
17-41586365-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586366_41586367del , CM000679.2:g.41586366_41586367del | GRCh38 |
| NC_000017.10:g.39742618_39742619del , CM000679.1:g.39742618_39742619del | GRCh37 |
| NC_000017.9:g.36996144_36996145del | NCBI36 |
| NG_008624.1:g.5529_5530del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.468_469del MANE Select | ENSP00000167586.6:p.Ala157Ter | |
| ENST00000167586.6:c.468_469del | ENSP00000167586.6:p.Ala157Ter | |
| NM_000526.4:c.468_469del | NP_000517.2:p.Ala157Ter | |
| NM_000526.5:c.468_469del MANE Select | NP_000517.3:p.Ala157Ter |