Linked Data
ClinVar Variation Id:
1347299
ClinVar RCV Id:
RCV002033076
dbSNP Id:
rs1358872532
gnomAD v4:
5-178994584-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994584C>A , CM000667.2:g.178994584C>A | GRCh38 |
| NC_000005.9:g.178421585C>A , CM000667.1:g.178421585C>A | GRCh37 |
| NC_000005.8:g.178354191C>A | NCBI36 |
| NG_008105.1:g.5540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.361G>T MANE Select | ENSP00000430767.1:p.Gly121Cys | |
| ENST00000650031.1:c.361G>T | ENSP00000497110.1:p.Gly121Cys | |
| ENST00000231188.9:c.361G>T | ENSP00000231188.5:p.Gly121Cys | |
| ENST00000517717.1:c.361G>T | ENSP00000430767.1:p.Gly121Cys | |
| NM_000843.3:c.361G>T | NP_000834.2:p.Gly121Cys | |
| NM_000843.4:c.361G>T MANE Select | NP_000834.2:p.Gly121Cys |