Linked Data
dbSNP Id:
rs879254939
gnomAD v3:
19-11113734-A-C
gnomAD v4:
19-11113734-A-C
MyVariant Identifiers:
chr19:g.11224410A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113734A>C , CM000681.2:g.11113734A>C | GRCh38 |
| NC_000019.9:g.11224410A>C , CM000681.1:g.11224410A>C | GRCh37 |
| NC_000019.8:g.11085410A>C | NCBI36 |
| NG_009060.1:g.29354A>C , LRG_274:g.29354A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1816A>C | ENSP00000252444.6:p.Arg606= | |
| ENST00000559340.2:c.1558A>C | ENSP00000453696.2:p.Arg520= | |
| ENST00000560467.2:c.1438A>C | ENSP00000453513.2:p.Arg480= | |
| ENST00000558518.6:c.1558A>C MANE Select | ENSP00000454071.1:p.Arg520= | |
| ENST00000252444.9:c.1812A>C | ||
| ENST00000455727.6:c.1054A>C | ENSP00000397829.2:p.Arg352= | |
| ENST00000535915.5:c.1435A>C | ENSP00000440520.1:p.Arg479= | |
| ENST00000545707.5:c.1177A>C | ENSP00000437639.1:p.Arg393= | |
| ENST00000557933.5:c.1558A>C | ENSP00000453557.1:p.Arg520= | |
| ENST00000558013.5:c.1558A>C | ENSP00000453346.1:p.Arg520= | |
| ENST00000558518.5:c.1558A>C | ENSP00000454071.1:p.Arg520= | |
| ENST00000559340.1:c.279A>C | ||
| NM_000527.4:c.1558A>C , LRG_274t1:c.1558A>C | NP_000518.1:p.Arg520= | |
| NM_001195798.1:c.1558A>C | NP_001182727.1:p.Arg520= | |
| NM_001195799.1:c.1435A>C | NP_001182728.1:p.Arg479= | |
| NM_001195800.1:c.1054A>C | NP_001182729.1:p.Arg352= | |
| NM_001195803.1:c.1177A>C | NP_001182732.1:p.Arg393= | |
| XM_011528010.1:c.1558A>C | XP_011526312.1:p.Arg520= | |
| XM_011528011.1:c.1177A>C | XP_011526313.1:p.Arg393= | |
| XR_244074.2:n.1708A>C | ||
| XM_011528010.2:c.1558A>C | XP_011526312.1:p.Arg520= | |
| XR_001753685.2:n.1675A>C | ||
| XR_001753686.2:n.1675A>C | ||
| NM_000527.5:c.1558A>C MANE Select | NP_000518.1:p.Arg520= | |
| NM_001195798.2:c.1558A>C | NP_001182727.1:p.Arg520= | |
| NM_001195799.2:c.1435A>C | NP_001182728.1:p.Arg479= | |
| NM_001195800.2:c.1054A>C | NP_001182729.1:p.Arg352= | |
| NM_001195803.2:c.1177A>C | NP_001182732.1:p.Arg393= |