Linked Data
dbSNP Id:
rs368244910
gnomAD v2:
11-47353899-C-CG
gnomAD v3:
11-47332348-C-CG
gnomAD v4:
11-47332348-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332354dup , CM000673.2:g.47332354dup | GRCh38 |
| NC_000011.9:g.47353905dup , CM000673.1:g.47353905dup | GRCh37 |
| NC_000011.8:g.47310481dup | NCBI36 |
| NG_007667.1:g.25354dup , LRG_386:g.25354dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3628-91dup MANE Select | ENSP00000442795.1:n.3628-91dup | |
| ENST00000256993.8:c.3628-91dup | ENSP00000256993.5:n.3628-91dup | |
| ENST00000399249.6:c.3628-91dup | ENSP00000382193.2:n.3628-91dup | |
| ENST00000545968.5:c.3628-91dup | ENSP00000442795.1:n.3628-91dup | |
| NM_000256.3:c.3628-91dup , LRG_386t1:c.3628-91dup MANE Select | NP_000247.2:n.3628-91dup | |
| XM_011520117.1:c.3610-91dup | XP_011518419.1:n.3610-91dup | |
| XM_011520118.1:c.3547-91dup | XP_011518420.1:n.3547-91dup |