Linked Data
ClinVar Variation Id:
408748
ClinVar RCV Id:
RCV000466650
dbSNP Id:
rs780345232
ExAC:
19:33793007 T / TCGC
gnomAD v2:
19-33793007-T-TCGC
gnomAD v3:
19-33302101-T-TCGC
gnomAD v4:
19-33302101-T-TCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302118_33302120dup , CM000681.2:g.33302118_33302120dup | GRCh38 |
| NC_000019.9:g.33793024_33793026dup , CM000681.1:g.33793024_33793026dup | GRCh37 |
| NC_000019.8:g.38484864_38484866dup | NCBI36 |
| NG_012022.1:g.5421_5423dup , LRG_456:g.5421_5423dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.311_313dup MANE Select | ENSP00000427514.1:p.Gly104_Asp105insGly | |
| ENST00000498907.2:c.311_313dup | ENSP00000427514.1:p.Gly104_Asp105insGly | |
| NM_001285829.1:c.-47_-45dup | NP_001272758.1:n.-47_-45dup | |
| NM_001287424.1:c.416_418dup | NP_001274353.1:p.Gly139_Asp140insGly | |
| NM_001287435.1:c.269_271dup | NP_001274364.1:p.Gly90_Asp91insGly | |
| NM_004364.4:c.311_313dup | NP_004355.2:p.Gly104_Asp105insGly | |
| NM_001287424.2:c.416_418dup | NP_001274353.1:p.Gly139_Asp140insGly | |
| NM_004364.5:c.311_313dup MANE Select | NP_004355.2:p.Gly104_Asp105insGly | |
| NM_001285829.2:c.-47_-45dup | NP_001272758.1:n.-47_-45dup | |
| NM_001287435.2:c.269_271dup | NP_001274364.1:p.Gly90_Asp91insGly |