Linked Data
ClinVar Variation Id:
870324
ClinVar RCV Id:
RCV001089868
dbSNP Id:
rs2068302412
COSMIC:
COSM1467885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367427G>A , CM000685.2:g.38367427G>A | GRCh38 |
| NC_000023.10:g.38226680G>A , CM000685.1:g.38226680G>A | GRCh37 |
| NC_000023.9:g.38111624G>A | NCBI36 |
| NG_008471.1:g.19945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.214G>A MANE Select | ENSP00000039007.4:p.Glu72Lys | |
| ENST00000643344.1:c.214G>A | ENSP00000496606.1:p.Glu72Lys | |
| ENST00000039007.4:c.214G>A | ENSP00000039007.4:p.Glu72Lys | |
| ENST00000465127.1:c.172-298694G>A | ENSP00000417050.1:n.172-298694G>A | |
| ENST00000488812.1:n.306G>A | ||
| NM_000531.5:c.214G>A | NP_000522.3:p.Glu72Lys | |
| XM_017029556.1:c.214G>A | XP_016885045.1:p.Glu72Lys | |
| NM_000531.6:c.214G>A MANE Select | NP_000522.3:p.Glu72Lys |