Linked Data
ClinVar Variation Id:
330301
dbSNP Id:
rs2230208
ExAC:
19:6697436 G / A
gnomAD v2:
19-6697436-G-A
gnomAD v3:
19-6697425-G-A
gnomAD v4:
19-6697425-G-A
COSMIC:
COSM1397409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697425G>A , CM000681.2:g.6697425G>A | GRCh38 |
| NC_000019.9:g.6697436G>A , CM000681.1:g.6697436G>A | GRCh37 |
| NC_000019.8:g.6648436G>A | NCBI36 |
| NG_009557.1:g.28227C>T , LRG_27:g.28227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1063C>T | ||
| ENST00000695652.1:c.2592C>T | ENSP00000512083.1:p.Thr864= | |
| ENST00000695653.1:c.624C>T | ENSP00000512084.1:p.Thr208= | |
| ENST00000695654.1:c.1839C>T | ENSP00000512085.1:p.Thr613= | |
| ENST00000695655.1:c.1656C>T | ENSP00000512086.1:n.1656C>T | |
| ENST00000695692.1:n.2079C>T | ||
| ENST00000245907.11:c.2715C>T MANE Select | ENSP00000245907.4:p.Thr905= | |
| ENST00000245907.10:c.2715C>T | ENSP00000245907.4:p.Thr905= | |
| ENST00000594005.1:n.291C>T | ||
| NM_000064.3:c.2715C>T | NP_000055.2:p.Thr905= | |
| NM_000064.4:c.2715C>T MANE Select | NP_000055.2:p.Thr905= |