Linked Data
ClinVar Variation Id:
203989
dbSNP Id:
rs796052056
ExAC:
8:74888632 C / CGT
gnomAD v2:
8-74888632-C-CGT
gnomAD v4:
8-73976397-C-CGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73976398_73976399dup , CM000670.2:g.73976398_73976399dup | GRCh38 |
| NC_000008.10:g.74888633_74888634dup , CM000670.1:g.74888633_74888634dup | GRCh37 |
| NC_000008.9:g.75051187_75051188dup | NCBI36 |
| NG_016618.1:g.5257_5258dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312184.6:c.117_118dup MANE Select | ENSP00000312599.5:p.Ser40CysfsTer11 | |
| ENST00000312184.5:c.117_118dup | ENSP00000312599.5:p.Ser40CysfsTer11 | |
| ENST00000416961.6:c.117_118dup | ENSP00000407695.2:p.Ser40CysfsTer11 | |
| ENST00000517439.1:c.117_118dup | ENSP00000429467.1:p.Ser40CysfsTer11 | |
| ENST00000517614.1:n.180_181dup | ||
| ENST00000520167.5:n.317+437_317+438dup | ||
| ENST00000523794.1:n.668_669dup | ||
| NM_001040613.2:c.117_118dup | NP_001035703.1:p.Ser40CysfsTer11 | |
| NM_017866.5:c.117_118dup | NP_060336.3:p.Ser40CysfsTer11 | |
| NR_033334.1:n.257_258dup | ||
| NM_017866.6:c.117_118dup MANE Select | NP_060336.3:p.Ser40CysfsTer11 | |
| NM_001040613.3:c.117_118dup | NP_001035703.1:p.Ser40CysfsTer11 | |
| NR_033334.2:n.204_205dup |