Linked Data
ClinVar Variation Id:
428589
dbSNP Id:
rs529613640
gnomAD v2:
7-6049099-C-A
gnomAD v3:
7-6009468-C-A
gnomAD v4:
7-6009468-C-A
PubMed:
PMID:29215095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6009468C>A , CM000669.2:g.6009468C>A | GRCh38 |
| NC_000007.13:g.6049099C>A , CM000669.1:g.6049099C>A | GRCh37 |
| NC_000007.12:g.6015625C>A | NCBI36 |
| NG_008466.1:g.4639G>T , LRG_161:g.4639G>T | |
| NG_050738.1:g.5218C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223029.8:c.105C>A MANE Select | ENSP00000223029.3:p.Tyr35Ter | |
| ENST00000223029.7:c.105C>A | ENSP00000223029.3:p.Tyr35Ter | |
| ENST00000395236.2:c.105C>A | ENSP00000378658.2:p.Tyr35Ter | |
| ENST00000400479.6:c.-251+90C>A | ENSP00000383327.2:n.-251+90C>A | |
| ENST00000415999.1:c.105C>A | ENSP00000392519.1:p.Tyr35Ter | |
| NM_006303.3:c.105C>A | NP_006294.2:p.Tyr35Ter | |
| XM_005249848.1:c.15+90C>A | XP_005249905.1:n.15+90C>A | |
| NM_001326606.1:c.15+90C>A | NP_001313535.1:n.15+90C>A | |
| NM_001326607.1:c.105C>A | NP_001313536.1:p.Tyr35Ter | |
| NM_001326609.1:c.-216C>A | NP_001313538.1:n.-216C>A | |
| NM_001326610.1:c.-251+90C>A | NP_001313539.1:n.-251+90C>A | |
| NM_001326611.2:c.-238+90C>A | NP_001313540.1:n.-238+90C>A | |
| NM_006303.4:c.105C>A MANE Select | NP_006294.2:p.Tyr35Ter | |
| NM_001326606.2:c.15+90C>A | NP_001313535.1:n.15+90C>A | |
| NM_001326607.2:c.105C>A | NP_001313536.1:p.Tyr35Ter | |
| NM_001326609.2:c.-216C>A | NP_001313538.1:n.-216C>A | |
| NM_001326610.2:c.-251+90C>A | NP_001313539.1:n.-251+90C>A | |
| NM_001326611.3:c.-238+90C>A | NP_001313540.1:n.-238+90C>A |