Linked Data
ClinVar Variation Id:
252266
ClinVar RCV Id:
RCV000237887
dbSNP Id:
rs879255170
gnomAD v2:
19-11234003-T-G
gnomAD v4:
19-11123327-T-G
PubMed:
PMID:24956927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123327T>G , CM000681.2:g.11123327T>G | GRCh38 |
| NC_000019.9:g.11234003T>G , CM000681.1:g.11234003T>G | GRCh37 |
| NC_000019.8:g.11095003T>G | NCBI36 |
| NG_009060.1:g.38947T>G , LRG_274:g.38947T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2552T>G | ENSP00000252444.6:p.Val851Gly | |
| ENST00000559340.2:c.*363T>G | ENSP00000453696.2:n.*363T>G | |
| ENST00000560467.2:c.2174T>G | ENSP00000453513.2:p.Val725Gly | |
| ENST00000558518.6:c.2294T>G MANE Select | ENSP00000454071.1:p.Val765Gly | |
| ENST00000252444.9:c.2548T>G | ||
| ENST00000455727.6:c.1790T>G | ENSP00000397829.2:p.Val597Gly | |
| ENST00000535915.5:c.2171T>G | ENSP00000440520.1:p.Val724Gly | |
| ENST00000545707.5:c.1760T>G | ENSP00000437639.1:p.Val587Gly | |
| ENST00000557933.5:c.2294T>G | ENSP00000453557.1:p.Val765Gly | |
| ENST00000558013.5:c.2294T>G | ENSP00000453346.1:p.Val765Gly | |
| ENST00000558518.5:c.2294T>G | ENSP00000454071.1:p.Val765Gly | |
| NM_000527.4:c.2294T>G , LRG_274t1:c.2294T>G | NP_000518.1:p.Val765Gly | |
| NM_001195798.1:c.2294T>G | NP_001182727.1:p.Val765Gly | |
| NM_001195799.1:c.2171T>G | NP_001182728.1:p.Val724Gly | |
| NM_001195800.1:c.1790T>G | NP_001182729.1:p.Val597Gly | |
| NM_001195803.1:c.1760T>G | NP_001182732.1:p.Val587Gly | |
| XM_011528010.1:c.2294T>G | XP_011526312.1:p.Val765Gly | |
| XM_011528011.1:c.1913T>G | XP_011526313.1:p.Val638Gly | |
| XR_244074.2:n.2304T>G | ||
| XM_011528010.2:c.2294T>G | XP_011526312.1:p.Val765Gly | |
| XR_001753685.2:n.2628T>G | ||
| XR_001753686.2:n.2271T>G | ||
| NM_000527.5:c.2294T>G MANE Select | NP_000518.1:p.Val765Gly | |
| NM_001195798.2:c.2294T>G | NP_001182727.1:p.Val765Gly | |
| NM_001195799.2:c.2171T>G | NP_001182728.1:p.Val724Gly | |
| NM_001195800.2:c.1790T>G | NP_001182729.1:p.Val597Gly | |
| NM_001195803.2:c.1760T>G | NP_001182732.1:p.Val587Gly |