Linked Data
ClinVar Variation Id:
375679
ClinVar RCV Id:
RCV000417125
dbSNP Id:
rs1057519607
gnomAD v4:
17-18178843-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18178849dup , CM000679.2:g.18178849dup | GRCh38 |
| NC_000017.10:g.18082163dup , CM000679.1:g.18082163dup | GRCh37 |
| NC_000017.9:g.18022888dup | NCBI36 |
| NG_011634.1:g.75144dup | |
| NG_011634.2:g.75144dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642418.1:n.3052dup | ||
| ENST00000643693.1:n.2514dup | ||
| ENST00000644795.1:c.*22dup | ENSP00000495720.1:n.*22dup | |
| ENST00000646782.1:n.3568dup | ||
| ENST00000647165.2:c.10572dup MANE Select | ENSP00000495481.1:p.Ser3525GlnfsTer? | |
| ENST00000651214.1:n.3055dup | ||
| ENST00000205890.9:c.10572dup | ENSP00000205890.5:p.Ser3525GlnfsTer? | |
| ENST00000418233.7:c.*22dup | ENSP00000408800.3:n.*22dup | |
| ENST00000433411.7:n.2098dup | ||
| ENST00000578575.1:c.1025dup | ||
| ENST00000579848.6:c.903dup | ENSP00000465910.1:n.903dup | |
| ENST00000615845.4:c.10572dup | ENSP00000481642.1:p.Ser3525GlnfsTer? | |
| NM_016239.3:c.10572dup | NP_057323.3:p.Ser3525GlnfsTer? | |
| XM_011523921.1:c.10566dup | XP_011522223.1:p.Ser3523GlnfsTer? | |
| XM_017024714.2:c.10512dup | XP_016880203.1:p.Ser3505GlnfsTer? | |
| XM_017024715.2:c.10575dup | XP_016880204.1:p.Ser3526GlnfsTer? | |
| NM_016239.4:c.10572dup MANE Select | NP_057323.3:p.Ser3525GlnfsTer? |