Linked Data
dbSNP Id:
rs1834565172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255838dup , CM000671.2:g.133255838dup | GRCh38 |
| NC_000009.11:g.136131225dup , CM000671.1:g.136131225dup | GRCh37 |
| NC_000009.10:g.135121046dup | NCBI36 |
| NG_006669.1:g.21831dup | |
| NG_006669.2:g.24379dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.923dup | ||
| ENST00000647353.1:n.54-4685dup | ||
| ENST00000679909.1:c.28+19325dup | ENSP00000506089.1:n.28+19325dup | |
| ENST00000453660.3:n.905dup | ||
| ENST00000538324.2:c.891dup | ENSP00000483018.1:p.Val298ArgfsTer? | |
| ENST00000611156.4:c.891dup | ENSP00000483265.1:p.Val298ArgfsTer? | |
| NM_020469.2:c.894dup | NP_065202.2:p.Val299ArgfsTer? | |
| NM_020469.3:c.894dup | NP_065202.2:p.Val299ArgfsTer? |