Linked Data
ClinVar Variation Id:
991849
dbSNP Id:
rs1844146929
gnomAD v4:
10-102835306-C-T
COSMIC:
COSM1345512
MyVariant Identifiers:
chr10:g.104595063C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835306C>T , CM000672.2:g.102835306C>T | GRCh38 |
| NC_000010.10:g.104595063C>T , CM000672.1:g.104595063C>T | GRCh37 |
| NC_000010.9:g.104585053C>T | NCBI36 |
| NG_007955.1:g.7228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.384G>A MANE Select | ENSP00000358903.3:p.Ala128= | |
| ENST00000638190.1:c.384G>A | ENSP00000492539.1:p.Ala128= | |
| ENST00000638272.1:c.297+1759G>A | ENSP00000491508.1:n.297+1759G>A | |
| ENST00000638971.1:c.384G>A | ENSP00000492313.1:p.Ala128= | |
| ENST00000639393.1:c.384G>A | ENSP00000492651.1:p.Ala128= | |
| ENST00000640633.1:n.146G>A | ||
| ENST00000369887.3:c.384G>A | ENSP00000358903.3:p.Ala128= | |
| ENST00000489268.1:n.638G>A | ||
| NM_000102.3:c.384G>A | NP_000093.1:p.Ala128= | |
| NM_000102.4:c.384G>A MANE Select | NP_000093.1:p.Ala128= |