Linked Data
ClinVar Variation Id:
2315618
ClinVar RCV Id:
RCV004163261
gnomAD v4:
10-94780612-G-A
COSMIC:
COSM3441953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780612G>A , CM000672.2:g.94780612G>A | GRCh38 |
| NC_000010.10:g.96540369G>A , CM000672.1:g.96540369G>A | GRCh37 |
| NC_000010.9:g.96530359G>A | NCBI36 |
| NG_008384.2:g.22907G>A | |
| NG_008384.3:g.22932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.595G>A MANE Select | ENSP00000360372.3:p.Glu199Lys | |
| ENST00000645461.1:n.1648G>A | ||
| ENST00000371321.7:c.595G>A | ENSP00000360372.3:p.Glu199Lys | |
| ENST00000464755.1:c.1358G>A | ENSP00000483243.1:n.1358G>A | |
| NM_000769.2:c.595G>A | NP_000760.1:p.Glu199Lys | |
| NM_000769.4:c.595G>A MANE Select | NP_000760.1:p.Glu199Lys |