Linked Data
ClinVar Variation Id:
17518
ClinVar RCV Id:
RCV000019070
dbSNP Id:
rs121912811
gnomAD v4:
15-74345103-G-A
COSMIC:
COSM2153039
PubMed:
PMID:12161514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74345103G>A , CM000677.2:g.74345103G>A | GRCh38 |
| NC_000015.9:g.74637444G>A , CM000677.1:g.74637444G>A | GRCh37 |
| NC_000015.8:g.72424497G>A | NCBI36 |
| NG_007973.1:g.27639C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.566C>T MANE Select | ENSP00000268053.6:p.Ala189Val | |
| ENST00000268053.10:c.566C>T | ENSP00000268053.6:p.Ala189Val | |
| ENST00000358632.8:c.92C>T | ENSP00000351455.4:p.Ala31Val | |
| ENST00000435365.5:c.566C>T | ENSP00000391081.1:p.Ala189Val | |
| ENST00000450547.1:c.92C>T | ENSP00000402064.1:p.Ala31Val | |
| ENST00000566674.5:c.92C>T | ENSP00000456941.1:p.Ala31Val | |
| NM_000781.2:c.566C>T | NP_000772.2:p.Ala189Val | |
| NM_001099773.1:c.92C>T | NP_001093243.1:p.Ala31Val | |
| NM_000781.3:c.566C>T MANE Select | NP_000772.2:p.Ala189Val | |
| NM_001099773.2:c.92C>T | NP_001093243.1:p.Ala31Val |