Linked Data
dbSNP Id:
rs886063683
gnomAD v2:
9-137734876-C-CA
gnomAD v3:
9-134843030-C-CA
gnomAD v4:
9-134843030-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843031dup , CM000671.2:g.134843031dup | GRCh38 |
| NC_000009.11:g.137734877dup , CM000671.1:g.137734877dup | GRCh37 |
| NC_000009.10:g.136874698dup | NCBI36 |
| NG_008030.1:g.206226dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*728dup | ENSP00000360885.4:n.*728dup | |
| ENST00000371817.8:c.*728dup MANE Select | ENSP00000360882.3:n.*728dup | |
| ENST00000371817.7:c.*728dup | ENSP00000360882.3:n.*728dup | |
| ENST00000618395.4:c.*728dup | ENSP00000481360.1:n.*728dup | |
| NM_000093.4:c.*728dup | NP_000084.3:n.*728dup | |
| NM_001278074.1:c.*728dup | NP_001265003.1:n.*728dup | |
| NR_103451.2:n.71-22822dup | ||
| NM_000093.5:c.*728dup MANE Select | NP_000084.3:n.*728dup |