Linked Data
ClinVar Variation Id:
3072625
ClinVar RCV Id:
RCV004013647
dbSNP Id:
rs745429866
gnomAD v3:
19-11129539-G-C
gnomAD v4:
19-11129539-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129539G>C , CM000681.2:g.11129539G>C | GRCh38 |
| NC_000019.9:g.11240215G>C , CM000681.1:g.11240215G>C | GRCh37 |
| NC_000019.8:g.11101215G>C | NCBI36 |
| NG_009060.1:g.45159G>C , LRG_274:g.45159G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2674G>C | ENSP00000252444.6:p.Val892Leu | |
| ENST00000559340.2:c.*485G>C | ENSP00000453696.2:n.*485G>C | |
| ENST00000560467.2:c.2296G>C | ENSP00000453513.2:p.Val766Leu | |
| ENST00000558518.6:c.2416G>C MANE Select | ENSP00000454071.1:p.Val806Leu | |
| ENST00000252444.9:c.2670G>C | ||
| ENST00000455727.6:c.1912G>C | ENSP00000397829.2:p.Val638Leu | |
| ENST00000535915.5:c.2293G>C | ENSP00000440520.1:p.Val765Leu | |
| ENST00000545707.5:c.1882G>C | ENSP00000437639.1:p.Val628Leu | |
| ENST00000557933.5:c.2478G>C | ENSP00000453557.1:p.Gly826= | |
| ENST00000558013.5:c.2416G>C | ENSP00000453346.1:p.Val806Leu | |
| ENST00000558518.5:c.2416G>C | ENSP00000454071.1:p.Val806Leu | |
| ENST00000560628.1:n.108+1885G>C | ||
| NM_000527.4:c.2416G>C , LRG_274t1:c.2416G>C | NP_000518.1:p.Val806Leu | |
| NM_001195798.1:c.2416G>C | NP_001182727.1:p.Val806Leu | |
| NM_001195799.1:c.2293G>C | NP_001182728.1:p.Val765Leu | |
| NM_001195800.1:c.1912G>C | NP_001182729.1:p.Val638Leu | |
| NM_001195803.1:c.1882G>C | NP_001182732.1:p.Val628Leu | |
| XM_011528010.1:c.2338G>C | XP_011526312.1:p.Val780Leu | |
| XM_011528011.1:c.2035G>C | XP_011526313.1:p.Val679Leu | |
| XR_244074.2:n.2426G>C | ||
| XM_011528010.2:c.2338G>C | XP_011526312.1:p.Val780Leu | |
| XR_001753685.2:n.2750G>C | ||
| XR_001753686.2:n.2393G>C | ||
| NM_000527.5:c.2416G>C MANE Select | NP_000518.1:p.Val806Leu | |
| NM_001195798.2:c.2416G>C | NP_001182727.1:p.Val806Leu | |
| NM_001195799.2:c.2293G>C | NP_001182728.1:p.Val765Leu | |
| NM_001195800.2:c.1912G>C | NP_001182729.1:p.Val638Leu | |
| NM_001195803.2:c.1882G>C | NP_001182732.1:p.Val628Leu |