Linked Data
ClinVar Variation Id:
1376617
ClinVar RCV Id:
RCV001886027
dbSNP Id:
rs748468540
ExAC:
9:131708211 C / T
gnomAD v2:
9-131708211-C-T
gnomAD v3:
9-128945932-C-T
gnomAD v4:
9-128945932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945932C>T , CM000671.2:g.128945932C>T | GRCh38 |
| NC_000009.11:g.131708211C>T , CM000671.1:g.131708211C>T | GRCh37 |
| NC_000009.10:g.130748032C>T | NCBI36 |
| NG_017009.1:g.6802G>A , LRG_744:g.6802G>A | |
| NG_033111.1:g.3240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1372G>A MANE Select | ENSP00000361667.3:p.Gly458Ser | |
| ENST00000372586.3:c.1372G>A | ENSP00000361667.3:p.Gly458Ser | |
| ENST00000482796.1:c.39-3257C>T | ENSP00000417556.2:n.39-3257C>T | |
| NM_014908.3:c.1372G>A , LRG_744t1:c.1372G>A | NP_055723.1:p.Gly458Ser | |
| NM_014908.4:c.1372G>A MANE Select | NP_055723.1:p.Gly458Ser |