Linked Data
ClinVar Variation Id:
3195442
ClinVar RCV Id:
RCV004486771
dbSNP Id:
rs145776906
gnomAD v3:
7-31338377-C-T
gnomAD v4:
7-31338377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.31338377C>T , CM000669.2:g.31338377C>T | GRCh38 |
| NC_000007.13:g.31377991C>T , CM000669.1:g.31377991C>T | GRCh37 |
| NC_000007.12:g.31344516C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297142.4:c.892G>A MANE Select | ENSP00000297142.3:p.Gly298Ser | |
| ENST00000297142.3:c.892G>A | ENSP00000297142.3:p.Gly298Ser | |
| ENST00000611245.1:c.892G>A | ENSP00000479428.1:p.Gly298Ser | |
| NM_022728.3:c.892G>A | NP_073565.2:p.Gly298Ser | |
| NM_022728.4:c.892G>A MANE Select | NP_073565.2:p.Gly298Ser |