Linked Data
ClinVar Variation Id:
1102418
ClinVar RCV Id:
RCV001425752
dbSNP Id:
rs1463846141
gnomAD v2:
15-90319999-C-T
gnomAD v3:
15-89776768-C-T
gnomAD v4:
15-89776768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776768C>T , CM000677.2:g.89776768C>T | GRCh38 |
| NC_000015.9:g.90319999C>T , CM000677.1:g.90319999C>T | GRCh37 |
| NC_000015.8:g.88121003C>T | NCBI36 |
| NG_008608.1:g.5411C>T | |
| NG_008608.2:g.21178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.411C>T MANE Select | ENSP00000342392.3:p.Ala137= | |
| ENST00000341735.3:c.411C>T | ENSP00000342392.3:p.Ala137= | |
| ENST00000558723.1:n.39-1297C>T | ||
| ENST00000560219.2:c.31-1297C>T | ENSP00000452998.1:n.31-1297C>T | |
| NM_001039958.1:c.411C>T | NP_001035047.1:p.Ala137= | |
| NM_001039958.2:c.411C>T MANE Select | NP_001035047.1:p.Ala137= |