Linked Data
ClinVar Variation Id:
36453
dbSNP Id:
rs137943601
ExAC:
19:11223989 G / A
gnomAD v2:
19-11223989-G-A
gnomAD v4:
19-11113313-G-A
COSMIC:
COSM710120
PubMed:
PMID:1301956
PMID:9026534
PMID:9698020
PMID:12436241
PMID:14974088
PMID:15199436
PMID:15625190
PMID:15633194
PMID:16250003
PMID:17347910
PMID:17765246
PMID:18022922
PMID:18503695
PMID:19318025
PMID:19843101
PMID:21310417
PMID:21531209
PMID:22698793
PMID:25487149
ERepo:
CA023437/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113313G>A , CM000681.2:g.11113313G>A | GRCh38 |
| NC_000019.9:g.11223989G>A , CM000681.1:g.11223989G>A | GRCh37 |
| NC_000019.8:g.11084989G>A | NCBI36 |
| NG_009060.1:g.28933G>A , LRG_274:g.28933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1480G>A | ENSP00000252444.6:p.Glu494Lys | |
| ENST00000559340.2:c.1222G>A | ENSP00000453696.2:p.Glu408Lys | |
| ENST00000560467.2:c.1102G>A | ENSP00000453513.2:p.Glu368Lys | |
| ENST00000558518.6:c.1222G>A MANE Select | ENSP00000454071.1:p.Glu408Lys | |
| ENST00000252444.9:c.1476G>A | ||
| ENST00000455727.6:c.718G>A | ENSP00000397829.2:p.Glu240Lys | |
| ENST00000535915.5:c.1099G>A | ENSP00000440520.1:p.Glu367Lys | |
| ENST00000545707.5:c.841G>A | ENSP00000437639.1:p.Glu281Lys | |
| ENST00000557933.5:c.1222G>A | ENSP00000453557.1:p.Glu408Lys | |
| ENST00000558013.5:c.1222G>A | ENSP00000453346.1:p.Glu408Lys | |
| ENST00000558518.5:c.1222G>A | ENSP00000454071.1:p.Glu408Lys | |
| ENST00000560173.1:n.221G>A | ||
| ENST00000560467.1:c.702G>A | ||
| NM_000527.4:c.1222G>A , LRG_274t1:c.1222G>A | NP_000518.1:p.Glu408Lys | |
| NM_001195798.1:c.1222G>A | NP_001182727.1:p.Glu408Lys | |
| NM_001195799.1:c.1099G>A | NP_001182728.1:p.Glu367Lys | |
| NM_001195800.1:c.718G>A | NP_001182729.1:p.Glu240Lys | |
| NM_001195803.1:c.841G>A | NP_001182732.1:p.Glu281Lys | |
| XM_011528010.1:c.1222G>A | XP_011526312.1:p.Glu408Lys | |
| XM_011528011.1:c.841G>A | XP_011526313.1:p.Glu281Lys | |
| XR_244074.2:n.1372G>A | ||
| XM_011528010.2:c.1222G>A | XP_011526312.1:p.Glu408Lys | |
| XR_001753685.2:n.1339G>A | ||
| XR_001753686.2:n.1339G>A | ||
| NM_000527.5:c.1222G>A MANE Select | NP_000518.1:p.Glu408Lys | |
| NM_001195798.2:c.1222G>A | NP_001182727.1:p.Glu408Lys | |
| NM_001195799.2:c.1099G>A | NP_001182728.1:p.Glu367Lys | |
| NM_001195800.2:c.718G>A | NP_001182729.1:p.Glu240Lys | |
| NM_001195803.2:c.841G>A | NP_001182732.1:p.Glu281Lys |