Linked Data
ClinVar Variation Id:
10506
ClinVar RCV Id:
RCV000011252
dbSNP Id:
rs104894913
PubMed:
PMID:12051694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154158844G>A , CM000685.2:g.154158844G>A | GRCh38 |
| NC_000023.10:g.153424319G>A , CM000685.1:g.153424319G>A | GRCh37 |
| NC_000023.9:g.153077513G>A | NCBI36 |
| NG_009105.2:g.19594G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369951.9:c.1013G>A MANE Select | ENSP00000358967.4:p.Gly338Glu | |
| ENST00000369951.8:c.1013G>A | ENSP00000358967.4:p.Gly338Glu | |
| ENST00000442922.1:c.413G>A | ENSP00000402493.1:p.Gly138Glu | |
| NM_020061.5:c.1013G>A | NP_064445.2:p.Gly338Glu | |
| NM_020061.6:c.1013G>A MANE Select | NP_064445.2:p.Gly338Glu |