Linked Data
ClinVar Variation Id:
425841
ClinVar RCV Id:
RCV000488608
dbSNP Id:
rs1085307272
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520128_202520129dup , CM000664.2:g.202520128_202520129dup | GRCh38 |
| NC_000002.11:g.203384851_203384852dup , CM000664.1:g.203384851_203384852dup | GRCh37 |
| NC_000002.10:g.203093096_203093097dup | NCBI36 |
| NG_009363.1:g.148802_148803dup , LRG_712:g.148802_148803dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.894_895dup MANE Select | ENSP00000363708.4:p.Val299GlyfsTer2 | |
| ENST00000638587.1:c.825_826dup | ENSP00000491062.1:p.Val276GlyfsTer2 | |
| ENST00000374574.2:c.894_895dup | ENSP00000363702.2:p.Val299GlyfsTer2 | |
| ENST00000374580.8:c.894_895dup | ENSP00000363708.4:p.Val299GlyfsTer2 | |
| NM_001204.6:c.894_895dup , LRG_712t1:c.894_895dup | NP_001195.2:p.Val299GlyfsTer2 | |
| XM_011511687.1:c.894_895dup | XP_011509989.1:p.Val299GlyfsTer2 | |
| XM_011511688.1:c.894_895dup | XP_011509990.1:p.Val299GlyfsTer2 | |
| NM_001204.7:c.894_895dup MANE Select | NP_001195.2:p.Val299GlyfsTer2 |