Linked Data
ClinVar Variation Id:
1399164
ClinVar RCV Id:
RCV001915417
dbSNP Id:
rs2113348491
gnomAD v4:
5-178994826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994826G>A , CM000667.2:g.178994826G>A | GRCh38 |
| NC_000005.9:g.178421827G>A , CM000667.1:g.178421827G>A | GRCh37 |
| NC_000005.8:g.178354433G>A | NCBI36 |
| NG_008105.1:g.5298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.119C>T MANE Select | ENSP00000430767.1:p.Thr40Met | |
| ENST00000650031.1:c.119C>T | ENSP00000497110.1:p.Thr40Met | |
| ENST00000231188.9:c.119C>T | ENSP00000231188.5:p.Thr40Met | |
| ENST00000517717.1:c.119C>T | ENSP00000430767.1:p.Thr40Met | |
| NM_000843.3:c.119C>T | NP_000834.2:p.Thr40Met | |
| NM_000843.4:c.119C>T MANE Select | NP_000834.2:p.Thr40Met |