Linked Data
ClinVar Variation Id:
309429
ClinVar RCV Id:
RCV000359173
dbSNP Id:
rs371717199
gnomAD v2:
12-52205996-G-GGTGT
gnomAD v3:
12-51812212-G-GGTGT
gnomAD v4:
12-51812212-G-GGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51812228_51812231dup , CM000674.2:g.51812228_51812231dup | GRCh38 |
| NC_000012.11:g.52206012_52206015dup , CM000674.1:g.52206012_52206015dup | GRCh37 |
| NC_000012.10:g.50492279_50492282dup | NCBI36 |
| NG_021180.2:g.225993_225996dup | |
| NG_021180.3:g.227271_227274dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.*4799_*4802dup MANE Plus Clinical | ENSP00000346534.4:n.*4799_*4802dup | |
| ENST00000627620.5:c.*4799_*4802dup MANE Select | ENSP00000487583.2:n.*4799_*4802dup | |
| ENST00000354534.10:c.*4799_*4802dup | ENSP00000346534.4:n.*4799_*4802dup | |
| ENST00000545061.5:c.*4799_*4802dup | ENSP00000440360.1:n.*4799_*4802dup | |
| NM_001177984.2:c.*4799_*4802dup | NP_001171455.1:n.*4799_*4802dup | |
| NM_014191.3:c.*4799_*4802dup | NP_055006.1:n.*4799_*4802dup | |
| NM_001330260.1:c.*4799_*4802dup | NP_001317189.1:n.*4799_*4802dup | |
| NM_001330260.2:c.*4799_*4802dup MANE Select | NP_001317189.1:n.*4799_*4802dup | |
| NM_001369788.1:c.*4799_*4802dup | NP_001356717.1:n.*4799_*4802dup | |
| NM_014191.4:c.*4799_*4802dup MANE Plus Clinical | NP_055006.1:n.*4799_*4802dup | |
| NM_001177984.3:c.*4799_*4802dup | NP_001171455.1:n.*4799_*4802dup |