Linked Data
ClinVar Variation Id:
1789783
ClinVar RCV Id:
RCV002448238
dbSNP Id:
rs1392900653
gnomAD v3:
19-11128032-G-C
gnomAD v4:
19-11128032-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128032G>C , CM000681.2:g.11128032G>C | GRCh38 |
| NC_000019.9:g.11238708G>C , CM000681.1:g.11238708G>C | GRCh37 |
| NC_000019.8:g.11099708G>C | NCBI36 |
| NG_009060.1:g.43652G>C , LRG_274:g.43652G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2594G>C | ENSP00000252444.6:p.Gly865Ala | |
| ENST00000559340.2:c.*405G>C | ENSP00000453696.2:n.*405G>C | |
| ENST00000560467.2:c.2216G>C | ENSP00000453513.2:p.Gly739Ala | |
| ENST00000558518.6:c.2336G>C MANE Select | ENSP00000454071.1:p.Gly779Ala | |
| ENST00000252444.9:c.2590G>C | ||
| ENST00000455727.6:c.1832G>C | ENSP00000397829.2:p.Gly611Ala | |
| ENST00000535915.5:c.2213G>C | ENSP00000440520.1:p.Gly738Ala | |
| ENST00000545707.5:c.1802G>C | ENSP00000437639.1:p.Gly601Ala | |
| ENST00000557933.5:c.2336G>C | ENSP00000453557.1:p.Gly779Ala | |
| ENST00000558013.5:c.2336G>C | ENSP00000453346.1:p.Gly779Ala | |
| ENST00000558518.5:c.2336G>C | ENSP00000454071.1:p.Gly779Ala | |
| ENST00000560628.1:n.108+378G>C | ||
| NM_000527.4:c.2336G>C , LRG_274t1:c.2336G>C | NP_000518.1:p.Gly779Ala | |
| NM_001195798.1:c.2336G>C | NP_001182727.1:p.Gly779Ala | |
| NM_001195799.1:c.2213G>C | NP_001182728.1:p.Gly738Ala | |
| NM_001195800.1:c.1832G>C | NP_001182729.1:p.Gly611Ala | |
| NM_001195803.1:c.1802G>C | NP_001182732.1:p.Gly601Ala | |
| XM_011528010.1:c.2312-1481G>C | XP_011526312.1:n.2312-1481G>C | |
| XM_011528011.1:c.1955G>C | XP_011526313.1:p.Gly652Ala | |
| XR_244074.2:n.2346G>C | ||
| XM_011528010.2:c.2312-1481G>C | XP_011526312.1:n.2312-1481G>C | |
| XR_001753685.2:n.2670G>C | ||
| XR_001753686.2:n.2313G>C | ||
| NM_000527.5:c.2336G>C MANE Select | NP_000518.1:p.Gly779Ala | |
| NM_001195798.2:c.2336G>C | NP_001182727.1:p.Gly779Ala | |
| NM_001195799.2:c.2213G>C | NP_001182728.1:p.Gly738Ala | |
| NM_001195800.2:c.1832G>C | NP_001182729.1:p.Gly611Ala | |
| NM_001195803.2:c.1802G>C | NP_001182732.1:p.Gly601Ala |