Linked Data
ClinVar Variation Id:
419861
ClinVar RCV Id:
RCV000705398
dbSNP Id:
rs767780451
ExAC:
3:10191542 G / A
gnomAD v2:
3-10191542-G-A
gnomAD v4:
3-10149858-G-A
COSMIC:
COSM14313
CIViC:
CA041455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149858G>A , CM000665.2:g.10149858G>A | GRCh38 |
| NC_000003.11:g.10191542G>A , CM000665.1:g.10191542G>A | GRCh37 |
| NC_000003.10:g.10166542G>A | NCBI36 |
| NG_008212.3:g.13224G>A , LRG_322:g.13224G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*212G>A | ENSP00000512434.1:n.*212G>A | |
| ENST00000696143.1:c.671G>A | ENSP00000512435.1:n.671G>A | |
| ENST00000696153.1:c.646G>A | ENSP00000512444.1:p.Asp216Asn | |
| ENST00000256474.3:c.535G>A MANE Select | ENSP00000256474.3:p.Asp179Asn | |
| ENST00000256474.2:c.535G>A | ENSP00000256474.2:p.Asp179Asn | |
| ENST00000345392.2:c.412G>A | ENSP00000344757.2:p.Asp138Asn | |
| ENST00000477538.1:n.671G>A | ||
| NM_000551.3:c.535G>A , LRG_322t1:c.535G>A | NP_000542.1:p.Asp179Asn | |
| NM_198156.2:c.412G>A | NP_937799.1:p.Asp138Asn | |
| NM_001354723.1:c.*89G>A | NP_001341652.1:n.*89G>A | |
| NM_000551.4:c.535G>A MANE Select | NP_000542.1:p.Asp179Asn | |
| NM_001354723.2:c.*89G>A | NP_001341652.1:n.*89G>A | |
| NM_198156.3:c.412G>A | NP_937799.1:p.Asp138Asn |