Linked Data
dbSNP Id:
rs749735228
ExAC:
9:12695535 T / TTAAG
gnomAD v2:
9-12695535-T-TTAAG
gnomAD v4:
9-12695535-T-TTAAG
MyVariant Identifiers:
chr9:g.12695535_12695536insTAAG (hg19)
chr9:g.12695535_12695536insTAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695539_12695542dup , CM000671.2:g.12695539_12695542dup | GRCh38 |
| NC_000009.11:g.12695539_12695542dup , CM000671.1:g.12695539_12695542dup | GRCh37 |
| NC_000009.10:g.12685539_12685542dup | NCBI36 |
| NG_011705.1:g.7154_7157dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.410_413dup MANE Select | ENSP00000373570.4:p.Glu139Ter | |
| ENST00000388918.9:c.410_413dup | ENSP00000373570.4:p.Glu139Ter | |
| NM_000550.2:c.410_413dup | NP_000541.1:p.Glu139Ter | |
| XR_001746372.2:n.599_602dup | ||
| NM_000550.3:c.410_413dup MANE Select | NP_000541.1:p.Glu139Ter |