Linked Data
dbSNP Id:
rs1064796830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114858_140114859del , CM000667.2:g.140114858_140114859del | GRCh38 |
| NC_000005.9:g.139494443_139494444del , CM000667.1:g.139494443_139494444del | GRCh37 |
| NC_000005.8:g.139474627_139474628del | NCBI36 |
| NG_041813.1:g.5736_5737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331327.5:c.677_678del MANE Select | ENSP00000332706.3:p.Val226GlyfsTer? | |
| ENST00000651386.1:c.677_678del | ENSP00000499133.1:p.Val226GlyfsTer? | |
| ENST00000331327.4:c.677_678del | ENSP00000332706.3:p.Val226GlyfsTer? | |
| NM_005859.4:c.677_678del | NP_005850.1:p.Val226GlyfsTer? | |
| NM_005859.5:c.677_678del MANE Select | NP_005850.1:p.Val226GlyfsTer? |