Linked Data
dbSNP Id:
rs1712307722
gnomAD v2:
3-191074795-G-GT
gnomAD v3:
3-191357006-G-GT
gnomAD v4:
3-191357006-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191357007dup , CM000665.2:g.191357007dup | GRCh38 |
| NC_000003.11:g.191074796dup , CM000665.1:g.191074796dup | GRCh37 |
| NC_000003.10:g.192557490dup | NCBI36 |
| NG_008994.1:g.32923dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.50-81dup MANE Select | ENSP00000376249.4:n.50-81dup | |
| ENST00000392456.4:c.50-81dup | ENSP00000376250.4:n.50-81dup | |
| ENST00000392455.7:c.50-81dup | ENSP00000376249.3:n.50-81dup | |
| ENST00000392456.3:c.50-81dup | ENSP00000376250.3:n.50-81dup | |
| NM_174908.3:c.50-81dup | NP_777568.1:n.50-81dup | |
| NM_178335.2:c.50-81dup | NP_848018.1:n.50-81dup | |
| XM_011512460.1:c.50-81dup | XP_011510762.1:n.50-81dup | |
| NM_178335.3:c.50-81dup MANE Select | NP_848018.1:n.50-81dup | |
| NM_174908.4:c.50-81dup | NP_777568.1:n.50-81dup |