Linked Data
ClinVar Variation Id:
1347880
ClinVar RCV Id:
RCV002044049
dbSNP Id:
rs2113347700
gnomAD v4:
5-178994572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994572C>T , CM000667.2:g.178994572C>T | GRCh38 |
| NC_000005.9:g.178421573C>T , CM000667.1:g.178421573C>T | GRCh37 |
| NC_000005.8:g.178354179C>T | NCBI36 |
| NG_008105.1:g.5552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.373G>A MANE Select | ENSP00000430767.1:p.Glu125Lys | |
| ENST00000650031.1:c.373G>A | ENSP00000497110.1:p.Glu125Lys | |
| ENST00000231188.9:c.373G>A | ENSP00000231188.5:p.Glu125Lys | |
| ENST00000517717.1:c.373G>A | ENSP00000430767.1:p.Glu125Lys | |
| NM_000843.3:c.373G>A | NP_000834.2:p.Glu125Lys | |
| NM_000843.4:c.373G>A MANE Select | NP_000834.2:p.Glu125Lys |