Linked Data
dbSNP Id:
rs768163616
ExAC:
8:42587663 CAT / C
gnomAD v2:
8-42587663-CAT-C
gnomAD v4:
8-42732520-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732521_42732522del , CM000670.2:g.42732521_42732522del | GRCh38 |
| NC_000008.10:g.42587664_42587665del , CM000670.1:g.42587664_42587665del | GRCh37 |
| NC_000008.9:g.42706821_42706822del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1214_1215del MANE Select | ENSP00000289957.2:p.His405ArgfsTer22 | |
| ENST00000289957.2:c.1214_1215del | ENSP00000289957.2:p.His405ArgfsTer22 | |
| NM_000749.3:c.1214_1215del | NP_000740.1:p.His405ArgfsTer22 | |
| XM_011544390.1:c.827_828del | XP_011542692.1:p.His276ArgfsTer22 | |
| NM_000749.4:c.1214_1215del | NP_000740.1:p.His405ArgfsTer22 | |
| NM_001347717.1:c.992_993del | NP_001334646.1:p.His331ArgfsTer22 | |
| XM_011544390.2:c.827_828del | XP_011542692.1:p.His276ArgfsTer22 | |
| NM_000749.5:c.1214_1215del MANE Select | NP_000740.1:p.His405ArgfsTer22 | |
| NM_001347717.2:c.992_993del | NP_001334646.1:p.His331ArgfsTer22 |