Linked Data
dbSNP Id:
rs34585717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529166dup , CM000681.2:g.7529166dup | GRCh38 |
| NC_000019.9:g.7594052dup , CM000681.1:g.7594052dup | GRCh37 |
| NC_000019.8:g.7500052dup | NCBI36 |
| NG_013374.1:g.15dup | |
| NG_015806.1:g.11557dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1200dup MANE Select | ENSP00000264079.5:p.Val401ArgfsTer? | |
| ENST00000264079.10:c.1200dup | ENSP00000264079.5:p.Val401ArgfsTer? | |
| ENST00000394321.9:n.1515dup | ||
| ENST00000594692.1:n.196dup | ||
| ENST00000595860.5:n.383dup | ||
| ENST00000599334.1:c.77dup | ||
| NM_020533.2:c.1200dup | NP_065394.1:p.Val401ArgfsTer? | |
| NM_020533.3:c.1200dup MANE Select | NP_065394.1:p.Val401ArgfsTer? |