Linked Data
ClinVar Variation Id:
161484
ClinVar RCV Id:
RCV000149018
dbSNP Id:
rs193920780
ExAC:
11:50003964 G / A
gnomAD v2:
11-50003964-G-A
gnomAD v3:
11-49982428-G-A
gnomAD v4:
11-49982428-G-A
COSMIC:
COSM1179184
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.49982428G>A , CM000673.2:g.49982428G>A | GRCh38 |
| NC_000011.9:g.50003964G>A , CM000673.1:g.50003964G>A | GRCh37 |
| NC_000011.8:g.49960540G>A | NCBI36 |
| NG_053127.1:g.5108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335238.4:c.74C>T MANE Select | ENSP00000334418.4:p.Thr25Met | |
| NM_001005270.4:c.74C>T MANE Select | NP_001005270.3:p.Thr25Met |