Linked Data
ClinVar Variation Id:
251895
dbSNP Id:
rs879254938
gnomAD v2:
19-11224405-A-G
gnomAD v4:
19-11113729-A-G
PubMed:
PMID:22881376
ERepo:
CA10585500/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113729A>G , CM000681.2:g.11113729A>G | GRCh38 |
| NC_000019.9:g.11224405A>G , CM000681.1:g.11224405A>G | GRCh37 |
| NC_000019.8:g.11085405A>G | NCBI36 |
| NG_009060.1:g.29349A>G , LRG_274:g.29349A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1811A>G | ENSP00000252444.6:p.Lys604Arg | |
| ENST00000559340.2:c.1553A>G | ENSP00000453696.2:p.Lys518Arg | |
| ENST00000560467.2:c.1433A>G | ENSP00000453513.2:p.Lys478Arg | |
| ENST00000558518.6:c.1553A>G MANE Select | ENSP00000454071.1:p.Lys518Arg | |
| ENST00000252444.9:c.1807A>G | ||
| ENST00000455727.6:c.1049A>G | ENSP00000397829.2:p.Lys350Arg | |
| ENST00000535915.5:c.1430A>G | ENSP00000440520.1:p.Lys477Arg | |
| ENST00000545707.5:c.1172A>G | ENSP00000437639.1:p.Lys391Arg | |
| ENST00000557933.5:c.1553A>G | ENSP00000453557.1:p.Lys518Arg | |
| ENST00000558013.5:c.1553A>G | ENSP00000453346.1:p.Lys518Arg | |
| ENST00000558518.5:c.1553A>G | ENSP00000454071.1:p.Lys518Arg | |
| ENST00000559340.1:c.274A>G | ||
| NM_000527.4:c.1553A>G , LRG_274t1:c.1553A>G | NP_000518.1:p.Lys518Arg | |
| NM_001195798.1:c.1553A>G | NP_001182727.1:p.Lys518Arg | |
| NM_001195799.1:c.1430A>G | NP_001182728.1:p.Lys477Arg | |
| NM_001195800.1:c.1049A>G | NP_001182729.1:p.Lys350Arg | |
| NM_001195803.1:c.1172A>G | NP_001182732.1:p.Lys391Arg | |
| XM_011528010.1:c.1553A>G | XP_011526312.1:p.Lys518Arg | |
| XM_011528011.1:c.1172A>G | XP_011526313.1:p.Lys391Arg | |
| XR_244074.2:n.1703A>G | ||
| XM_011528010.2:c.1553A>G | XP_011526312.1:p.Lys518Arg | |
| XR_001753685.2:n.1670A>G | ||
| XR_001753686.2:n.1670A>G | ||
| NM_000527.5:c.1553A>G MANE Select | NP_000518.1:p.Lys518Arg | |
| NM_001195798.2:c.1553A>G | NP_001182727.1:p.Lys518Arg | |
| NM_001195799.2:c.1430A>G | NP_001182728.1:p.Lys477Arg | |
| NM_001195800.2:c.1049A>G | NP_001182729.1:p.Lys350Arg | |
| NM_001195803.2:c.1172A>G | NP_001182732.1:p.Lys391Arg |