Linked Data
ClinVar Variation Id:
2024126
ClinVar RCV Id:
RCV002876026
MyVariant Identifiers:
chr19:g.17945805G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834996G>T , CM000681.2:g.17834996G>T | GRCh38 |
| NC_000019.9:g.17945805G>T , CM000681.1:g.17945805G>T | GRCh37 |
| NC_000019.8:g.17806805G>T | NCBI36 |
| NG_007273.1:g.17996C>A , LRG_77:g.17996C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*612C>A | ENSP00000513006.1:n.*612C>A | |
| ENST00000696967.1:n.1232C>A | ||
| ENST00000696970.1:n.710C>A | ||
| ENST00000458235.7:c.2055C>A MANE Select | ENSP00000391676.1:p.Thr685= | |
| ENST00000458235.5:c.2055C>A | ENSP00000391676.1:p.Thr685= | |
| ENST00000527031.5:n.2278+1731C>A | ||
| ENST00000527670.5:c.2055C>A | ENSP00000432511.1:p.Thr685= | |
| ENST00000534444.1:c.2055C>A | ENSP00000436421.1:p.Thr685= | |
| NM_000215.3:c.2055C>A , LRG_77t1:c.2055C>A | NP_000206.2:p.Thr685= | |
| XM_005259896.2:c.2184C>A | XP_005259953.1:p.Thr728= | |
| XM_006722745.2:c.2055C>A | XP_006722808.1:p.Thr685= | |
| XM_011527990.1:c.2184C>A | XP_011526292.1:p.Thr728= | |
| XR_430137.2:n.2194C>A | ||
| XM_005259896.3:c.2184C>A | XP_005259953.1:p.Thr728= | |
| NM_000215.4:c.2055C>A MANE Select | NP_000206.2:p.Thr685= |