Linked Data
ClinVar Variation Id:
206425
ClinVar RCV Id:
RCV000188469
dbSNP Id:
rs750550558
ExAC:
19:50365437 C / CTT
gnomAD v2:
19-50365437-C-CTT
gnomAD v3:
19-49862180-C-CTT
gnomAD v4:
19-49862180-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49862181_49862182dup , CM000681.2:g.49862181_49862182dup | GRCh38 |
| NC_000019.9:g.50365438_50365439dup , CM000681.1:g.50365438_50365439dup | GRCh37 |
| NC_000019.8:g.55057250_55057251dup | NCBI36 |
| NG_027717.1:g.10384_10385dup | |
| NG_050666.1:g.18338_18339dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1126+3_1126+4dup MANE Select | ENSP00000323511.2:n.1126+3_1126+4dup | |
| ENST00000322344.7:c.1126+3_1126+4dup | ENSP00000323511.2:n.1126+3_1126+4dup | |
| ENST00000593706.3:n.484_485dup | ||
| ENST00000593946.5:c.*1053+3_*1053+4dup | ENSP00000468896.1:n.*1053+3_*1053+4dup | |
| ENST00000594661.5:n.1627+3_1627+4dup | ||
| ENST00000596014.5:c.1126+3_1126+4dup | ENSP00000472300.1:n.1126+3_1126+4dup | |
| ENST00000600573.5:c.1033+3_1033+4dup | ENSP00000469826.1:n.1033+3_1033+4dup | |
| ENST00000600910.5:c.1126+3_1126+4dup | ENSP00000473137.1:n.1126+3_1126+4dup | |
| ENST00000601816.3:n.25+3_25+4dup | ||
| ENST00000625216.2:c.208-77_208-76dup | ENSP00000486898.1:n.208-77_208-76dup | |
| ENST00000627232.2:c.1046+3_1046+4dup | ENSP00000486037.1:n.1046+3_1046+4dup | |
| ENST00000627317.1:c.747+3_747+4dup | ||
| ENST00000631020.2:c.1018+3_1018+4dup | ENSP00000486707.1:n.1018+3_1018+4dup | |
| NM_007254.3:c.1126+3_1126+4dup | NP_009185.2:n.1126+3_1126+4dup | |
| NM_007254.4:c.1126+3_1126+4dup MANE Select | NP_009185.2:n.1126+3_1126+4dup |