Linked Data
ClinVar Variation Id:
402269
ClinVar RCV Id:
RCV000454173
dbSNP Id:
rs1060499804
gnomAD v4:
16-21705213-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21705213A>T , CM000678.2:g.21705213A>T | GRCh38 |
| NC_000016.9:g.21716534A>T , CM000678.1:g.21716534A>T | GRCh37 |
| NC_000016.8:g.21624035A>T | NCBI36 |
| NG_012973.1:g.31700A>T | |
| NG_012973.2:g.46081A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.1025A>T | ENSP00000373610.3:p.Asp342Val | |
| ENST00000646100.2:c.1025A>T MANE Select | ENSP00000496564.2:p.Asp342Val | |
| ENST00000647277.1:c.980+4186A>T | ENSP00000495594.1:n.980+4186A>T | |
| ENST00000286149.8:c.1067A>T | ENSP00000286149.4:p.Asp356Val | |
| ENST00000388956.8:c.788A>T | ENSP00000373608.4:p.Asp263Val | |
| ENST00000388957.3:c.53A>T | ENSP00000373609.3:p.Asp18Val | |
| ENST00000388958.7:c.1025A>T | ENSP00000373610.3:p.Asp342Val | |
| ENST00000563871.5:n.245A>T | ||
| ENST00000569064.1:n.247A>T | ||
| NM_001161683.1:c.788A>T | NP_001155155.1:p.Asp263Val | |
| NM_144672.3:c.1025A>T | NP_653273.3:p.Asp342Val | |
| NM_170664.2:c.53A>T | NP_733764.1:p.Asp18Val | |
| XM_011545747.1:c.1025A>T | XP_011544049.1:p.Asp342Val | |
| XM_011545748.1:c.-259A>T | XP_011544050.1:n.-259A>T | |
| NM_144672.4:c.1025A>T MANE Select | NP_653273.3:p.Asp342Val | |
| XM_011545748.2:c.-259A>T | XP_011544050.2:n.-259A>T | |
| XR_002957775.1:n.120A>T | ||
| NM_001161683.2:c.788A>T | NP_001155155.1:p.Asp263Val | |
| NM_170664.3:c.53A>T | NP_733764.1:p.Asp18Val |