Linked Data
ClinVar Variation Id:
919770
ClinVar RCV Id:
RCV001178135
dbSNP Id:
rs2077583057
gnomAD v4:
19-11123181-G-A
MyVariant Identifiers:
chr19:g.11233857G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123181G>A , CM000681.2:g.11123181G>A | GRCh38 |
| NC_000019.9:g.11233857G>A , CM000681.1:g.11233857G>A | GRCh37 |
| NC_000019.8:g.11094857G>A | NCBI36 |
| NG_009060.1:g.38801G>A , LRG_274:g.38801G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2406G>A | ENSP00000252444.6:p.Glu802= | |
| ENST00000559340.2:c.*217G>A | ENSP00000453696.2:n.*217G>A | |
| ENST00000560467.2:c.2028G>A | ENSP00000453513.2:p.Glu676= | |
| ENST00000558518.6:c.2148G>A MANE Select | ENSP00000454071.1:p.Glu716= | |
| ENST00000252444.9:c.2402G>A | ||
| ENST00000455727.6:c.1644G>A | ENSP00000397829.2:p.Glu548= | |
| ENST00000535915.5:c.2025G>A | ENSP00000440520.1:p.Glu675= | |
| ENST00000545707.5:c.1614G>A | ENSP00000437639.1:p.Glu538= | |
| ENST00000557933.5:c.2148G>A | ENSP00000453557.1:p.Glu716= | |
| ENST00000558013.5:c.2148G>A | ENSP00000453346.1:p.Glu716= | |
| ENST00000558518.5:c.2148G>A | ENSP00000454071.1:p.Glu716= | |
| NM_000527.4:c.2148G>A , LRG_274t1:c.2148G>A | NP_000518.1:p.Glu716= | |
| NM_001195798.1:c.2148G>A | NP_001182727.1:p.Glu716= | |
| NM_001195799.1:c.2025G>A | NP_001182728.1:p.Glu675= | |
| NM_001195800.1:c.1644G>A | NP_001182729.1:p.Glu548= | |
| NM_001195803.1:c.1614G>A | NP_001182732.1:p.Glu538= | |
| XM_011528010.1:c.2148G>A | XP_011526312.1:p.Glu716= | |
| XM_011528011.1:c.1767G>A | XP_011526313.1:p.Glu589= | |
| XR_244074.2:n.2158G>A | ||
| XM_011528010.2:c.2148G>A | XP_011526312.1:p.Glu716= | |
| XR_001753685.2:n.2482G>A | ||
| XR_001753686.2:n.2125G>A | ||
| NM_000527.5:c.2148G>A MANE Select | NP_000518.1:p.Glu716= | |
| NM_001195798.2:c.2148G>A | NP_001182727.1:p.Glu716= | |
| NM_001195799.2:c.2025G>A | NP_001182728.1:p.Glu675= | |
| NM_001195800.2:c.1644G>A | NP_001182729.1:p.Glu548= | |
| NM_001195803.2:c.1614G>A | NP_001182732.1:p.Glu538= |