Linked Data
dbSNP Id:
rs1862773831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045927_5045928insCCAA , CM000674.2:g.5045927_5045928insCCAA | GRCh38 |
| NC_000012.11:g.5155093_5155094insCCAA , CM000674.1:g.5155093_5155094insCCAA | GRCh37 |
| NC_000012.10:g.5025354_5025355insCCAA | NCBI36 |
| NG_012198.1:g.7009_7010insCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1780_1781insCCAA MANE Select | ENSP00000252321.3:p.Val594AlafsTer? | |
| ENST00000252321.4:c.1780_1781insCCAA | ENSP00000252321.3:p.Val594AlafsTer? | |
| NM_002234.3:c.1780_1781insCCAA | NP_002225.2:p.Val594AlafsTer? | |
| NM_002234.4:c.1780_1781insCCAA MANE Select | NP_002225.2:p.Val594AlafsTer? |