Linked Data
dbSNP Id:
rs1279166256
gnomAD v2:
6-24145528-A-AAT
gnomAD v3:
6-24145300-A-AAT
gnomAD v4:
6-24145300-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145311_24145312dup , CM000668.2:g.24145311_24145312dup | GRCh38 |
| NC_000006.11:g.24145539_24145540dup , CM000668.1:g.24145539_24145540dup | GRCh37 |
| NC_000006.10:g.24253518_24253519dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.190-237_190-236dup MANE Select | ENSP00000367752.4:n.190-237_190-236dup | |
| ENST00000378477.2:c.190-237_190-236dup | ENSP00000367738.2:n.190-237_190-236dup | |
| ENST00000378478.5:c.190-237_190-236dup | ENSP00000367739.2:n.190-237_190-236dup | |
| ENST00000378491.8:c.190-237_190-236dup | ENSP00000367752.4:n.190-237_190-236dup | |
| ENST00000468195.2:n.257-9460_257-9459dup | ||
| NM_080723.4:c.190-237_190-236dup | NP_542454.3:n.190-237_190-236dup | |
| NM_080723.5:c.190-237_190-236dup MANE Select | NP_542454.3:n.190-237_190-236dup |