Linked Data
ClinVar Variation Id:
252141
dbSNP Id:
rs879255094
gnomAD v3:
19-11120222-C-A
gnomAD v4:
19-11120222-C-A
ERepo:
CA10585704/MONDO:0007750/013
PubMed:
PMID:15199436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120222C>A , CM000681.2:g.11120222C>A | GRCh38 |
| NC_000019.9:g.11230898C>A , CM000681.1:g.11230898C>A | GRCh37 |
| NC_000019.8:g.11091898C>A | NCBI36 |
| NG_009060.1:g.35842C>A , LRG_274:g.35842C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2234C>A | ENSP00000252444.6:p.Thr745Asn | |
| ENST00000559340.2:c.*45C>A | ENSP00000453696.2:n.*45C>A | |
| ENST00000560467.2:c.1856C>A | ENSP00000453513.2:p.Thr619Asn | |
| ENST00000558518.6:c.1976C>A MANE Select | ENSP00000454071.1:p.Thr659Asn | |
| ENST00000252444.9:c.2230C>A | ||
| ENST00000455727.6:c.1472C>A | ENSP00000397829.2:p.Thr491Asn | |
| ENST00000535915.5:c.1853C>A | ENSP00000440520.1:p.Thr618Asn | |
| ENST00000545707.5:c.1595C>A | ENSP00000437639.1:p.Thr532Asn | |
| ENST00000557933.5:c.1976C>A | ENSP00000453557.1:p.Thr659Asn | |
| ENST00000558013.5:c.1976C>A | ENSP00000453346.1:p.Thr659Asn | |
| ENST00000558518.5:c.1976C>A | ENSP00000454071.1:p.Thr659Asn | |
| ENST00000559340.1:c.557C>A | ||
| NM_000527.4:c.1976C>A , LRG_274t1:c.1976C>A | NP_000518.1:p.Thr659Asn | |
| NM_001195798.1:c.1976C>A | NP_001182727.1:p.Thr659Asn | |
| NM_001195799.1:c.1853C>A | NP_001182728.1:p.Thr618Asn | |
| NM_001195800.1:c.1472C>A | NP_001182729.1:p.Thr491Asn | |
| NM_001195803.1:c.1595C>A | NP_001182732.1:p.Thr532Asn | |
| XM_011528010.1:c.1976C>A | XP_011526312.1:p.Thr659Asn | |
| XM_011528011.1:c.1595C>A | XP_011526313.1:p.Thr532Asn | |
| XR_244074.2:n.1986C>A | ||
| XM_011528010.2:c.1976C>A | XP_011526312.1:p.Thr659Asn | |
| XR_001753685.2:n.2093C>A | ||
| XR_001753686.2:n.1953C>A | ||
| NM_000527.5:c.1976C>A MANE Select | NP_000518.1:p.Thr659Asn | |
| NM_001195798.2:c.1976C>A | NP_001182727.1:p.Thr659Asn | |
| NM_001195799.2:c.1853C>A | NP_001182728.1:p.Thr618Asn | |
| NM_001195800.2:c.1472C>A | NP_001182729.1:p.Thr491Asn | |
| NM_001195803.2:c.1595C>A | NP_001182732.1:p.Thr532Asn |