Linked Data
ClinVar Variation Id:
161757
ClinVar RCV Id:
RCV000149293
dbSNP Id:
rs193920884
ExAC:
15:89008944 G / A
gnomAD v2:
15-89008944-G-A
gnomAD v3:
15-88465713-G-A
gnomAD v4:
15-88465713-G-A
COSMIC:
COSM2014484
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88465713G>A , CM000677.2:g.88465713G>A | GRCh38 |
| NC_000015.9:g.89008944G>A , CM000677.1:g.89008944G>A | GRCh37 |
| NC_000015.8:g.86809948G>A | NCBI36 |
| NG_046990.1:g.6690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312475.5:c.289C>T MANE Select | ENSP00000312311.4:p.Arg97Ter | |
| ENST00000561140.1:n.151C>T | ||
| ENST00000649547.1:c.*816C>T | ENSP00000497509.1:n.*816C>T | |
| ENST00000312475.4:c.289C>T | ENSP00000312311.4:p.Arg97Ter | |
| ENST00000558531.1:c.289C>T | ENSP00000477676.1:p.Arg97Ter | |
| ENST00000558660.1:n.35C>T | ||
| ENST00000560703.1:c.229-837C>T | ENSP00000453881.1:n.229-837C>T | |
| NM_022163.3:c.289C>T | NP_071446.2:p.Arg97Ter | |
| NM_022163.4:c.289C>T MANE Select | NP_071446.2:p.Arg97Ter |