Linked Data
ClinVar Variation Id:
766150
ClinVar RCV Id:
RCV001408722
dbSNP Id:
rs1313464574
gnomAD v2:
11-118183553-G-A
gnomAD v3:
11-118312838-G-A
gnomAD v4:
11-118312838-G-A
COSMIC:
COSM274447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312838G>A , CM000673.2:g.118312838G>A | GRCh38 |
| NC_000011.9:g.118183553G>A , CM000673.1:g.118183553G>A | GRCh37 |
| NC_000011.8:g.117688763G>A | NCBI36 |
| NG_007383.1:g.13259G>A , LRG_38:g.13259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.324G>A MANE Select | ENSP00000354566.4:p.Ala108= | |
| ENST00000361763.8:c.324G>A | ENSP00000354566.4:p.Ala108= | |
| ENST00000526146.5:n.870G>A | ||
| ENST00000528435.5:n.877G>A | ||
| ENST00000528600.1:c.306G>A | ENSP00000433975.1:p.Ala102= | |
| ENST00000529713.5:n.430G>A | ||
| ENST00000531913.1:n.695G>A | ||
| NM_000733.3:c.324G>A , LRG_38t1:c.324G>A | NP_000724.1:p.Ala108= | |
| NM_000733.4:c.324G>A MANE Select | NP_000724.1:p.Ala108= |