Linked Data
ClinVar Variation Id:
9141
dbSNP Id:
rs121917851
ExAC:
8:63978615 G / A
gnomAD v2:
8-63978615-G-A
gnomAD v3:
8-63066056-G-A
gnomAD v4:
8-63066056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63066056G>A , CM000670.2:g.63066056G>A | GRCh38 |
| NC_000008.10:g.63978615G>A , CM000670.1:g.63978615G>A | GRCh37 |
| NC_000008.9:g.64141169G>A | NCBI36 |
| NG_016123.1:g.24998C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.400C>T MANE Select | ENSP00000260116.4:p.Arg134Ter | |
| ENST00000260116.4:c.400C>T | ENSP00000260116.4:p.Arg134Ter | |
| ENST00000521138.1:n.233-17453C>T | ||
| NM_000370.3:c.400C>T MANE Select | NP_000361.1:p.Arg134Ter | |
| XM_006716468.2:c.205-1740C>T | XP_006716531.1:n.205-1740C>T | |
| XM_006716468.4:c.205-1740C>T | XP_006716531.1:n.205-1740C>T |