Linked Data
ClinVar Variation Id:
1931420
ClinVar RCV Id:
RCV002631550
dbSNP Id:
rs773264250
ExAC:
2:96958850 T / TA
gnomAD v2:
2-96958850-T-TA
gnomAD v3:
2-96293112-T-TA
gnomAD v4:
2-96293112-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96293113dup , CM000664.2:g.96293113dup | GRCh38 |
| NC_000002.11:g.96958851dup , CM000664.1:g.96958851dup | GRCh37 |
| NC_000002.10:g.96322578dup | NCBI36 |
| NG_016973.1:g.17447dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2037-18dup MANE Select | ENSP00000317123.5:n.2037-18dup | |
| ENST00000652267.1:c.2037-18dup | ENSP00000498933.1:n.2037-18dup | |
| ENST00000323853.9:c.2037-18dup | ENSP00000317123.5:n.2037-18dup | |
| NM_014014.4:c.2037-18dup | NP_054733.2:n.2037-18dup | |
| NM_014014.5:c.2037-18dup MANE Select | NP_054733.2:n.2037-18dup |