Linked Data
ClinVar Variation Id:
3014447
dbSNP Id:
rs779074975
ExAC:
19:39075585 T / C
gnomAD v2:
19-39075585-T-C
gnomAD v4:
19-38584945-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38584945T>C , CM000681.2:g.38584945T>C | GRCh38 |
| NC_000019.9:g.39075585T>C , CM000681.1:g.39075585T>C | GRCh37 |
| NC_000019.8:g.43767425T>C | NCBI36 |
| NG_008866.1:g.156246T>C , LRG_766:g.156246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1585T>C | ||
| ENST00000688602.1:c.2982T>C | ||
| ENST00000689936.1:c.2954T>C | ||
| ENST00000692547.1:n.42T>C | ||
| ENST00000359596.8:c.14649T>C MANE Select | ENSP00000352608.2:p.Cys4883= | |
| ENST00000355481.8:c.14634T>C | ENSP00000347667.3:p.Cys4878= | |
| ENST00000359596.7:c.14649T>C | ENSP00000352608.2:p.Cys4883= | |
| ENST00000360985.7:c.14631T>C | ENSP00000354254.4:p.Cys4877= | |
| NM_000540.2:c.14649T>C , LRG_766t1:c.14649T>C | NP_000531.2:p.Cys4883= | |
| NM_001042723.1:c.14634T>C | NP_001036188.1:p.Cys4878= | |
| XM_006723317.1:c.14631T>C | XP_006723380.1:p.Cys4877= | |
| XM_006723319.1:c.14616T>C | XP_006723382.1:p.Cys4872= | |
| XM_011527204.1:c.14646T>C | XP_011525506.1:p.Cys4882= | |
| XM_011527205.1:c.14562T>C | XP_011525507.1:p.Cys4854= | |
| XM_006723317.2:c.14631T>C | XP_006723380.1:p.Cys4877= | |
| XM_006723319.2:c.14616T>C | XP_006723382.1:p.Cys4872= | |
| XM_011527205.2:c.14562T>C | XP_011525507.1:p.Cys4854= | |
| NM_000540.3:c.14649T>C MANE Select | NP_000531.2:p.Cys4883= | |
| NM_001042723.2:c.14634T>C | NP_001036188.1:p.Cys4878= |