Linked Data
ClinVar Variation Id:
128319
dbSNP Id:
rs4275402
ExAC:
1:990280 C / T
gnomAD v2:
1-990280-C-T
gnomAD v3:
1-1054900-C-T
gnomAD v4:
1-1054900-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1054900C>T , CM000663.2:g.1054900C>T | GRCh38 |
| NC_000001.10:g.990280C>T , CM000663.1:g.990280C>T | GRCh37 |
| NC_000001.9:g.980143C>T | NCBI36 |
| NG_016346.1:g.39778C>T , LRG_198:g.39778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.6057C>T MANE Select | ENSP00000368678.2:p.Asp2019= | |
| ENST00000651234.1:c.5811C>T | ENSP00000499046.1:p.Asp1937= | |
| ENST00000652369.1:c.5742C>T | ENSP00000498543.1:p.Asp1914= | |
| ENST00000379370.6:c.6057C>T | ENSP00000368678.2:p.Asp2019= | |
| ENST00000461111.1:n.2173C>T | ||
| ENST00000620552.4:c.5712C>T | ENSP00000484607.1:p.Asp1904= | |
| NM_001305275.1:c.6126C>T | NP_001292204.1:p.Asp2042= | |
| NM_198576.3:c.6057C>T | NP_940978.2:p.Asp2019= | |
| XM_005244749.2:c.6069C>T | XP_005244806.1:p.Asp2023= | |
| XM_011541429.1:c.5992+349C>T | XP_011539731.1:n.5992+349C>T | |
| XM_011541430.1:c.5196C>T | XP_011539732.1:p.Asp1732= | |
| XM_011541431.1:c.4335C>T | XP_011539733.1:p.Asp1445= | |
| XR_946650.1:n.6136C>T | ||
| NM_001364727.1:c.5754C>T | NP_001351656.1:p.Asp1918= | |
| XM_005244749.3:c.6069C>T | XP_005244806.1:p.Asp2023= | |
| XM_011541429.2:c.5992+349C>T | XP_011539731.1:n.5992+349C>T | |
| XR_946650.2:n.6140C>T | ||
| NM_001305275.2:c.6126C>T | NP_001292204.1:p.Asp2042= | |
| NM_198576.4:c.6057C>T MANE Select | NP_940978.2:p.Asp2019= | |
| NM_001364727.2:c.5754C>T | NP_001351656.1:p.Asp1918= |