Linked Data
ClinVar Variation Id:
252340
ClinVar RCV Id:
RCV000237741
dbSNP Id:
rs879255215
PubMed:
PMID:15556094
ERepo:
CA10585869/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129596A>G , CM000681.2:g.11129596A>G | GRCh38 |
| NC_000019.9:g.11240272A>G , CM000681.1:g.11240272A>G | GRCh37 |
| NC_000019.8:g.11101272A>G | NCBI36 |
| NG_009060.1:g.45216A>G , LRG_274:g.45216A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2731A>G | ENSP00000252444.6:p.Asn911Asp | |
| ENST00000559340.2:c.*542A>G | ENSP00000453696.2:n.*542A>G | |
| ENST00000560467.2:c.2353A>G | ENSP00000453513.2:p.Asn785Asp | |
| ENST00000558518.6:c.2473A>G MANE Select | ENSP00000454071.1:p.Asn825Asp | |
| ENST00000252444.9:c.2727A>G | ||
| ENST00000455727.6:c.1969A>G | ENSP00000397829.2:p.Asn657Asp | |
| ENST00000535915.5:c.2350A>G | ENSP00000440520.1:p.Asn784Asp | |
| ENST00000545707.5:c.1939A>G | ENSP00000437639.1:p.Asn647Asp | |
| ENST00000557933.5:c.2535A>G | ENSP00000453557.1:p.Thr845= | |
| ENST00000558013.5:c.2473A>G | ENSP00000453346.1:p.Asn825Asp | |
| ENST00000558518.5:c.2473A>G | ENSP00000454071.1:p.Asn825Asp | |
| ENST00000560628.1:n.108+1942A>G | ||
| NM_000527.4:c.2473A>G , LRG_274t1:c.2473A>G | NP_000518.1:p.Asn825Asp | |
| NM_001195798.1:c.2473A>G | NP_001182727.1:p.Asn825Asp | |
| NM_001195799.1:c.2350A>G | NP_001182728.1:p.Asn784Asp | |
| NM_001195800.1:c.1969A>G | NP_001182729.1:p.Asn657Asp | |
| NM_001195803.1:c.1939A>G | NP_001182732.1:p.Asn647Asp | |
| XM_011528010.1:c.2395A>G | XP_011526312.1:p.Asn799Asp | |
| XM_011528011.1:c.2092A>G | XP_011526313.1:p.Asn698Asp | |
| XM_011528010.2:c.2395A>G | XP_011526312.1:p.Asn799Asp | |
| XR_001753685.2:n.2807A>G | ||
| XR_001753686.2:n.2450A>G | ||
| NM_000527.5:c.2473A>G MANE Select | NP_000518.1:p.Asn825Asp | |
| NM_001195798.2:c.2473A>G | NP_001182727.1:p.Asn825Asp | |
| NM_001195799.2:c.2350A>G | NP_001182728.1:p.Asn784Asp | |
| NM_001195800.2:c.1969A>G | NP_001182729.1:p.Asn657Asp | |
| NM_001195803.2:c.1939A>G | NP_001182732.1:p.Asn647Asp |