Linked Data
ClinVar Variation Id:
2087064
ClinVar RCV Id:
RCV003017756
dbSNP Id:
rs2077587816
MyVariant Identifiers:
chr19:g.11234007A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123331A>G , CM000681.2:g.11123331A>G | GRCh38 |
| NC_000019.9:g.11234007A>G , CM000681.1:g.11234007A>G | GRCh37 |
| NC_000019.8:g.11095007A>G | NCBI36 |
| NG_009060.1:g.38951A>G , LRG_274:g.38951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2556A>G | ENSP00000252444.6:p.Thr852= | |
| ENST00000559340.2:c.*367A>G | ENSP00000453696.2:n.*367A>G | |
| ENST00000560467.2:c.2178A>G | ENSP00000453513.2:p.Thr726= | |
| ENST00000558518.6:c.2298A>G MANE Select | ENSP00000454071.1:p.Thr766= | |
| ENST00000252444.9:c.2552A>G | ||
| ENST00000455727.6:c.1794A>G | ENSP00000397829.2:p.Thr598= | |
| ENST00000535915.5:c.2175A>G | ENSP00000440520.1:p.Thr725= | |
| ENST00000545707.5:c.1764A>G | ENSP00000437639.1:p.Thr588= | |
| ENST00000557933.5:c.2298A>G | ENSP00000453557.1:p.Thr766= | |
| ENST00000558013.5:c.2298A>G | ENSP00000453346.1:p.Thr766= | |
| ENST00000558518.5:c.2298A>G | ENSP00000454071.1:p.Thr766= | |
| NM_000527.4:c.2298A>G , LRG_274t1:c.2298A>G | NP_000518.1:p.Thr766= | |
| NM_001195798.1:c.2298A>G | NP_001182727.1:p.Thr766= | |
| NM_001195799.1:c.2175A>G | NP_001182728.1:p.Thr725= | |
| NM_001195800.1:c.1794A>G | NP_001182729.1:p.Thr598= | |
| NM_001195803.1:c.1764A>G | NP_001182732.1:p.Thr588= | |
| XM_011528010.1:c.2298A>G | XP_011526312.1:p.Thr766= | |
| XM_011528011.1:c.1917A>G | XP_011526313.1:p.Thr639= | |
| XR_244074.2:n.2308A>G | ||
| XM_011528010.2:c.2298A>G | XP_011526312.1:p.Thr766= | |
| XR_001753685.2:n.2632A>G | ||
| XR_001753686.2:n.2275A>G | ||
| NM_000527.5:c.2298A>G MANE Select | NP_000518.1:p.Thr766= | |
| NM_001195798.2:c.2298A>G | NP_001182727.1:p.Thr766= | |
| NM_001195799.2:c.2175A>G | NP_001182728.1:p.Thr725= | |
| NM_001195800.2:c.1794A>G | NP_001182729.1:p.Thr598= | |
| NM_001195803.2:c.1764A>G | NP_001182732.1:p.Thr588= |