Linked Data
ClinVar Variation Id:
5386
dbSNP Id:
rs121918307
ExAC:
8:103225057 G / A
gnomAD v2:
8-103225057-G-A
gnomAD v4:
8-102212829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102212829G>A , CM000670.2:g.102212829G>A | GRCh38 |
| NC_000008.10:g.103225057G>A , CM000670.1:g.103225057G>A | GRCh37 |
| NC_000008.9:g.103294233G>A | NCBI36 |
| NG_016617.1:g.31290C>T , LRG_788:g.31290C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.850C>T MANE Select | ENSP00000251810.3:p.Gln284Ter | |
| ENST00000251810.7:c.850C>T | ENSP00000251810.3:p.Gln284Ter | |
| ENST00000395910.6:n.237C>T | ||
| ENST00000395912.6:c.694C>T | ENSP00000379248.2:p.Gln232Ter | |
| ENST00000519125.1:n.368C>T | ||
| ENST00000519317.5:c.214C>T | ENSP00000430641.1:p.Gln72Ter | |
| ENST00000519962.5:c.49-4544C>T | ENSP00000429140.1:n.49-4544C>T | |
| ENST00000522368.5:c.1019C>T | ||
| ENST00000522394.1:c.183C>T | ENSP00000429578.1:n.183C>T | |
| ENST00000621845.1:c.688C>T | ENSP00000484318.1:p.Gln230Ter | |
| NM_001172477.1:c.1066C>T , LRG_788t1:c.1066C>T | NP_001165948.1:p.Gln356Ter | |
| NM_001172478.1:c.694C>T | NP_001165949.1:p.Gln232Ter | |
| NM_015713.4:c.850C>T , LRG_788t2:c.850C>T | NP_056528.2:p.Gln284Ter | |
| NM_001172478.2:c.694C>T | NP_001165949.1:p.Gln232Ter | |
| NM_015713.5:c.850C>T MANE Select | NP_056528.2:p.Gln284Ter |