Linked Data
ClinVar Variation Id:
252317
ClinVar RCV Id:
RCV000237223
dbSNP Id:
rs879255193
gnomAD v4:
19-11129512-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129512G>C , CM000681.2:g.11129512G>C | GRCh38 |
| NC_000019.9:g.11240188G>C , CM000681.1:g.11240188G>C | GRCh37 |
| NC_000019.8:g.11101188G>C | NCBI36 |
| NG_009060.1:g.45132G>C , LRG_274:g.45132G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2648-1G>C | ENSP00000252444.6:n.2648-1G>C | |
| ENST00000559340.2:c.*459-1G>C | ENSP00000453696.2:n.*459-1G>C | |
| ENST00000560467.2:c.2270-1G>C | ENSP00000453513.2:n.2270-1G>C | |
| ENST00000558518.6:c.2390-1G>C MANE Select | ENSP00000454071.1:n.2390-1G>C | |
| ENST00000252444.9:c.2644-1G>C | ||
| ENST00000455727.6:c.1886-1G>C | ENSP00000397829.2:n.1886-1G>C | |
| ENST00000535915.5:c.2267-1G>C | ENSP00000440520.1:n.2267-1G>C | |
| ENST00000545707.5:c.1856-1G>C | ENSP00000437639.1:n.1856-1G>C | |
| ENST00000557933.5:c.2451G>C | ENSP00000453557.1:p.Gln817His | |
| ENST00000558013.5:c.2390-1G>C | ENSP00000453346.1:n.2390-1G>C | |
| ENST00000558518.5:c.2390-1G>C | ENSP00000454071.1:n.2390-1G>C | |
| ENST00000560628.1:n.108+1858G>C | ||
| NM_000527.4:c.2390-1G>C , LRG_274t1:c.2390-1G>C | NP_000518.1:n.2390-1G>C | |
| NM_001195798.1:c.2390-1G>C | NP_001182727.1:n.2390-1G>C | |
| NM_001195799.1:c.2267-1G>C | NP_001182728.1:n.2267-1G>C | |
| NM_001195800.1:c.1886-1G>C | NP_001182729.1:n.1886-1G>C | |
| NM_001195803.1:c.1856-1G>C | NP_001182732.1:n.1856-1G>C | |
| XM_011528010.1:c.2312-1G>C | XP_011526312.1:n.2312-1G>C | |
| XM_011528011.1:c.2009-1G>C | XP_011526313.1:n.2009-1G>C | |
| XR_244074.2:n.2400-1G>C | ||
| XM_011528010.2:c.2312-1G>C | XP_011526312.1:n.2312-1G>C | |
| XR_001753685.2:n.2724-1G>C | ||
| XR_001753686.2:n.2367-1G>C | ||
| NM_000527.5:c.2390-1G>C MANE Select | NP_000518.1:n.2390-1G>C | |
| NM_001195798.2:c.2390-1G>C | NP_001182727.1:n.2390-1G>C | |
| NM_001195799.2:c.2267-1G>C | NP_001182728.1:n.2267-1G>C | |
| NM_001195800.2:c.1886-1G>C | NP_001182729.1:n.1886-1G>C | |
| NM_001195803.2:c.1856-1G>C | NP_001182732.1:n.1856-1G>C |