Linked Data
dbSNP Id:
rs1359494198
gnomAD v2:
10-69676818-T-TA
gnomAD v3:
10-67917061-T-TA
gnomAD v4:
10-67917061-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67917062dup , CM000672.2:g.67917062dup | GRCh38 |
| NC_000010.10:g.69676819dup , CM000672.1:g.69676819dup | GRCh37 |
| NC_000010.9:g.69346825dup | NCBI36 |
| NG_050664.1:g.37401dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.*469dup MANE Select | ENSP00000212015.6:n.*469dup | |
| ENST00000212015.10:c.*469dup | ENSP00000212015.6:n.*469dup | |
| ENST00000403579.1:c.*469dup | ENSP00000384063.1:n.*469dup | |
| ENST00000406900.5:c.*469dup | ENSP00000384508.1:n.*469dup | |
| ENST00000432464.5:c.*469dup | ENSP00000409208.1:n.*469dup | |
| NM_001142498.1:c.*469dup | NP_001135970.1:n.*469dup | |
| NM_001314049.1:c.*469dup | NP_001300978.1:n.*469dup | |
| NM_012238.4:c.*469dup | NP_036370.2:n.*469dup | |
| XM_006717737.2:c.*469dup | XP_006717800.1:n.*469dup | |
| XM_011539561.1:c.*469dup | XP_011537863.1:n.*469dup | |
| NM_012238.5:c.*469dup MANE Select | NP_036370.2:n.*469dup | |
| NM_001142498.2:c.*469dup | NP_001135970.1:n.*469dup |