Linked Data
dbSNP Id:
rs764003306
ExAC:
20:44576095 C / CA
gnomAD v2:
20-44576095-C-CA
gnomAD v4:
20-45947456-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947457dup , CM000682.2:g.45947457dup | GRCh38 |
| NC_000020.10:g.44576096dup , CM000682.1:g.44576096dup | GRCh37 |
| NC_000020.9:g.44009503dup | NCBI36 |
| NG_029772.1:g.29738dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1883+19dup MANE Select | ENSP00000361486.3:n.1883+19dup | |
| ENST00000372409.7:c.1883+19dup | ENSP00000361486.3:n.1883+19dup | |
| ENST00000479348.2:c.758dup | ||
| NM_022104.3:c.1883+19dup | NP_071387.1:n.1883+19dup | |
| XM_011528980.1:c.1883+19dup | XP_011527282.1:n.1883+19dup | |
| XM_011528981.1:c.1883+19dup | XP_011527283.1:n.1883+19dup | |
| XM_011528982.1:c.839+19dup | XP_011527284.1:n.839+19dup | |
| XM_011528980.3:c.1883+19dup | XP_011527282.1:n.1883+19dup | |
| XM_011528981.3:c.1883+19dup | XP_011527283.1:n.1883+19dup | |
| XM_017028013.2:c.1883+19dup | XP_016883502.1:n.1883+19dup | |
| XM_017028014.2:c.839+19dup | XP_016883503.1:n.839+19dup | |
| NM_022104.4:c.1883+19dup MANE Select | NP_071387.1:n.1883+19dup |