Linked Data
ClinVar Variation Id:
2789096
ClinVar RCV Id:
RCV003760046
dbSNP Id:
rs754570127
ExAC:
9:130616620 C / T
gnomAD v2:
9-130616620-C-T
gnomAD v4:
9-127854341-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854341C>T , CM000671.2:g.127854341C>T | GRCh38 |
| NC_000009.11:g.130616620C>T , CM000671.1:g.130616620C>T | GRCh37 |
| NC_000009.10:g.129656441C>T | NCBI36 |
| NG_009551.1:g.5428G>A , LRG_589:g.5428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.15G>A MANE Select | ENSP00000362299.4:p.Thr5= | |
| ENST00000344849.4:c.15G>A | ENSP00000341917.3:p.Thr5= | |
| ENST00000373203.8:c.15G>A | ENSP00000362299.4:p.Thr5= | |
| NM_000118.3:c.15G>A , LRG_589t1:c.15G>A | NP_000109.1:p.Thr5= | |
| NM_001114753.2:c.15G>A , LRG_589t2:c.15G>A | NP_001108225.1:p.Thr5= | |
| NM_001114753.3:c.15G>A MANE Select | NP_001108225.1:p.Thr5= |