Linked Data
ClinVar Variation Id:
298622
ClinVar RCV Id:
RCV000392668
dbSNP Id:
rs142435666
ExAC:
10:104594580 T / C
gnomAD v2:
10-104594580-T-C
gnomAD v3:
10-102834823-T-C
gnomAD v4:
10-102834823-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834823T>C , CM000672.2:g.102834823T>C | GRCh38 |
| NC_000010.10:g.104594580T>C , CM000672.1:g.104594580T>C | GRCh37 |
| NC_000010.9:g.104584570T>C | NCBI36 |
| NG_007955.1:g.7711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.628A>G MANE Select | ENSP00000358903.3:p.Ser210Gly | |
| ENST00000638190.1:c.628A>G | ENSP00000492539.1:p.Ser210Gly | |
| ENST00000638272.1:c.298-1615A>G | ENSP00000491508.1:n.298-1615A>G | |
| ENST00000638971.1:c.628A>G | ENSP00000492313.1:p.Ser210Gly | |
| ENST00000639393.1:c.628A>G | ENSP00000492651.1:p.Ser210Gly | |
| ENST00000640633.1:n.390A>G | ||
| ENST00000369887.3:c.628A>G | ENSP00000358903.3:p.Ser210Gly | |
| ENST00000489268.1:n.882A>G | ||
| NM_000102.3:c.628A>G | NP_000093.1:p.Ser210Gly | |
| NM_000102.4:c.628A>G MANE Select | NP_000093.1:p.Ser210Gly |