Linked Data
ClinVar Variation Id:
2700830
ClinVar RCV Id:
RCV003592510
MyVariant Identifiers:
chr19:g.39075696C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585056C>G , CM000681.2:g.38585056C>G | GRCh38 |
| NC_000019.9:g.39075696C>G , CM000681.1:g.39075696C>G | GRCh37 |
| NC_000019.8:g.43767536C>G | NCBI36 |
| NG_008866.1:g.156357C>G , LRG_766:g.156357C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1696C>G | ||
| ENST00000688602.1:c.3093C>G | ||
| ENST00000689936.1:c.3065C>G | ||
| ENST00000692547.1:n.153C>G | ||
| ENST00000359596.8:c.14760C>G MANE Select | ENSP00000352608.2:p.Thr4920= | |
| ENST00000355481.8:c.14745C>G | ENSP00000347667.3:p.Thr4915= | |
| ENST00000359596.7:c.14760C>G | ENSP00000352608.2:p.Thr4920= | |
| ENST00000360985.7:c.14742C>G | ENSP00000354254.4:p.Thr4914= | |
| NM_000540.2:c.14760C>G , LRG_766t1:c.14760C>G | NP_000531.2:p.Thr4920= | |
| NM_001042723.1:c.14745C>G | NP_001036188.1:p.Thr4915= | |
| XM_006723317.1:c.14742C>G | XP_006723380.1:p.Thr4914= | |
| XM_006723319.1:c.14727C>G | XP_006723382.1:p.Thr4909= | |
| XM_011527204.1:c.14757C>G | XP_011525506.1:p.Thr4919= | |
| XM_011527205.1:c.14673C>G | XP_011525507.1:p.Thr4891= | |
| XM_006723317.2:c.14742C>G | XP_006723380.1:p.Thr4914= | |
| XM_006723319.2:c.14727C>G | XP_006723382.1:p.Thr4909= | |
| XM_011527205.2:c.14673C>G | XP_011525507.1:p.Thr4891= | |
| NM_000540.3:c.14760C>G MANE Select | NP_000531.2:p.Thr4920= | |
| NM_001042723.2:c.14745C>G | NP_001036188.1:p.Thr4915= |