Linked Data
ClinVar Variation Id:
65926
dbSNP Id:
rs118192153
ExAC:
19:39075653 C / T
gnomAD v2:
19-39075653-C-T
gnomAD v4:
19-38585013-C-T
PubMed:
PMID:20301565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585013C>T , CM000681.2:g.38585013C>T | GRCh38 |
| NC_000019.9:g.39075653C>T , CM000681.1:g.39075653C>T | GRCh37 |
| NC_000019.8:g.43767493C>T | NCBI36 |
| NG_008866.1:g.156314C>T , LRG_766:g.156314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1653C>T | ||
| ENST00000688602.1:c.3050C>T | ||
| ENST00000689936.1:c.3022C>T | ||
| ENST00000692547.1:n.110C>T | ||
| ENST00000359596.8:c.14717C>T MANE Select | ENSP00000352608.2:p.Ala4906Val | |
| ENST00000355481.8:c.14702C>T | ENSP00000347667.3:p.Ala4901Val | |
| ENST00000359596.7:c.14717C>T | ENSP00000352608.2:p.Ala4906Val | |
| ENST00000360985.7:c.14699C>T | ENSP00000354254.4:p.Ala4900Val | |
| NM_000540.2:c.14717C>T , LRG_766t1:c.14717C>T | NP_000531.2:p.Ala4906Val | |
| NM_001042723.1:c.14702C>T | NP_001036188.1:p.Ala4901Val | |
| XM_006723317.1:c.14699C>T | XP_006723380.1:p.Ala4900Val | |
| XM_006723319.1:c.14684C>T | XP_006723382.1:p.Ala4895Val | |
| XM_011527204.1:c.14714C>T | XP_011525506.1:p.Ala4905Val | |
| XM_011527205.1:c.14630C>T | XP_011525507.1:p.Ala4877Val | |
| XM_006723317.2:c.14699C>T | XP_006723380.1:p.Ala4900Val | |
| XM_006723319.2:c.14684C>T | XP_006723382.1:p.Ala4895Val | |
| XM_011527205.2:c.14630C>T | XP_011525507.1:p.Ala4877Val | |
| NM_000540.3:c.14717C>T MANE Select | NP_000531.2:p.Ala4906Val | |
| NM_001042723.2:c.14702C>T | NP_001036188.1:p.Ala4901Val |