Linked Data
ClinVar Variation Id:
333083
dbSNP Id:
rs886055341
gnomAD v2:
2-189876967-T-A
gnomAD v3:
2-189012241-T-A
gnomAD v4:
2-189012241-T-A
COSMIC:
COSN4800243
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189012241T>A , CM000664.2:g.189012241T>A | GRCh38 |
| NC_000002.11:g.189876967T>A , CM000664.1:g.189876967T>A | GRCh37 |
| NC_000002.10:g.189585212T>A | NCBI36 |
| NG_007404.1:g.42869T>A , LRG_3:g.42869T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.*467T>A | ENSP00000415346.2:n.*467T>A | |
| ENST00000304636.9:c.*467T>A MANE Select | ENSP00000304408.4:n.*467T>A | |
| ENST00000304636.7:c.*467T>A | ENSP00000304408.3:n.*467T>A | |
| NM_000090.3:c.*467T>A , LRG_3t1:c.*467T>A | NP_000081.1:n.*467T>A | |
| NM_000090.4:c.*467T>A MANE Select | NP_000081.2:n.*467T>A |