Linked Data
ClinVar Variation Id:
1124335
ClinVar RCV Id:
RCV001455687
dbSNP Id:
rs1844147594
gnomAD v3:
10-102835336-G-A
gnomAD v4:
10-102835336-G-A
MyVariant Identifiers:
chr10:g.104595093G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835336G>A , CM000672.2:g.102835336G>A | GRCh38 |
| NC_000010.10:g.104595093G>A , CM000672.1:g.104595093G>A | GRCh37 |
| NC_000010.9:g.104585083G>A | NCBI36 |
| NG_007955.1:g.7198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.354C>T MANE Select | ENSP00000358903.3:p.Gly118= | |
| ENST00000638190.1:c.354C>T | ENSP00000492539.1:p.Gly118= | |
| ENST00000638272.1:c.297+1729C>T | ENSP00000491508.1:n.297+1729C>T | |
| ENST00000638971.1:c.354C>T | ENSP00000492313.1:p.Gly118= | |
| ENST00000639393.1:c.354C>T | ENSP00000492651.1:p.Gly118= | |
| ENST00000640633.1:n.116C>T | ||
| ENST00000369887.3:c.354C>T | ENSP00000358903.3:p.Gly118= | |
| ENST00000489268.1:n.608C>T | ||
| NM_000102.3:c.354C>T | NP_000093.1:p.Gly118= | |
| NM_000102.4:c.354C>T MANE Select | NP_000093.1:p.Gly118= |