Linked Data
ClinVar Variation Id:
782313
ClinVar RCV Id:
RCV000963686
dbSNP Id:
rs1459715923
gnomAD v2:
16-68679548-C-T
gnomAD v4:
16-68645645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645645C>T , CM000678.2:g.68645645C>T | GRCh38 |
| NC_000016.9:g.68679548C>T , CM000678.1:g.68679548C>T | GRCh37 |
| NC_000016.8:g.67237049C>T | NCBI36 |
| NG_009096.1:g.6398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.55C>T MANE Select | ENSP00000264012.4:p.Leu19= | |
| ENST00000264012.8:c.55C>T | ENSP00000264012.4:p.Leu19= | |
| ENST00000429102.6:c.55C>T | ENSP00000398485.2:p.Leu19= | |
| ENST00000542274.5:c.45+221C>T | ENSP00000464021.1:n.45+221C>T | |
| ENST00000566808.2:c.9C>T | ||
| NM_001793.4:c.55C>T | NP_001784.2:p.Leu19= | |
| XM_011522800.1:c.55C>T | XP_011521102.1:p.Leu19= | |
| NM_001317195.1:c.55C>T | NP_001304124.1:p.Leu19= | |
| NM_001317196.1:c.-6+221C>T | NP_001304125.1:n.-6+221C>T | |
| NM_001793.5:c.55C>T | NP_001784.2:p.Leu19= | |
| XM_011522800.3:c.55C>T | XP_011521102.1:p.Leu19= | |
| NM_001793.6:c.55C>T MANE Select | NP_001784.2:p.Leu19= | |
| NM_001317195.2:c.55C>T | NP_001304124.1:p.Leu19= | |
| NM_001317196.2:c.-6+221C>T | NP_001304125.1:n.-6+221C>T | |
| NM_001317195.3:c.55C>T | NP_001304124.1:p.Leu19= |