Linked Data
dbSNP Id:
rs1350419654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675445_52675451del , CM000674.2:g.52675445_52675451del | GRCh38 |
| NC_000012.11:g.53069229_53069235del , CM000674.1:g.53069229_53069235del | GRCh37 |
| NC_000012.10:g.51355496_51355502del | NCBI36 |
| NG_008364.1:g.9957_9963del | |
| NG_008364.2:g.9957_9963del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1677_1683del MANE Select | ENSP00000252244.3:p.Tyr559Ter | |
| NM_006121.3:c.1677_1683del | NP_006112.3:p.Tyr559Ter | |
| NM_006121.4:c.1677_1683del MANE Select | NP_006112.3:p.Tyr559Ter |