Linked Data
ClinVar Variation Id:
267659
ClinVar RCV Id:
RCV000258313
dbSNP Id:
rs878853287
PubMed:
PMID:24607278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32330917A>C , CM000675.2:g.32330917A>C | GRCh38 |
| NC_000013.10:g.32905054A>C , CM000675.1:g.32905054A>C | GRCh37 |
| NC_000013.9:g.31803054A>C | NCBI36 |
| NG_012772.3:g.20438A>C , LRG_293:g.20438A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.682-2A>C | ENSP00000434898.2:n.682-2A>C | |
| ENST00000528762.2:c.682-2A>C | ENSP00000433168.2:n.682-2A>C | |
| ENST00000530893.7:c.313-2A>C | ENSP00000499438.2:n.313-2A>C | |
| ENST00000665585.2:c.682-2A>C | ENSP00000499570.2:n.682-2A>C | |
| ENST00000666593.2:c.682-2A>C | ENSP00000499256.2:n.682-2A>C | |
| ENST00000700202.2:c.682-2A>C | ENSP00000514856.2:n.682-2A>C | |
| ENST00000700201.1:c.*461-2A>C | ENSP00000514855.1:n.*461-2A>C | |
| ENST00000380152.8:c.682-2A>C MANE Select | ENSP00000369497.3:n.682-2A>C | |
| ENST00000544455.6:c.682-2A>C | ENSP00000439902.1:n.682-2A>C | |
| ENST00000614259.2:c.682-2A>C | ENSP00000506251.1:n.682-2A>C | |
| ENST00000680887.1:c.682-2A>C | ENSP00000505508.1:n.682-2A>C | |
| ENST00000380152.7:c.682-2A>C | ENSP00000369497.3:n.682-2A>C | |
| ENST00000530893.6:n.880-2A>C | ||
| ENST00000544455.5:c.682-2A>C | ENSP00000439902.1:n.682-2A>C | |
| ENST00000614259.1:n.682-2A>C | ||
| NM_000059.3:c.682-2A>C , LRG_293t1:c.682-2A>C | NP_000050.2:n.682-2A>C | |
| XM_011535203.1:c.682-2A>C | XP_011533505.1:n.682-2A>C | |
| XM_011535204.1:c.682-2A>C | XP_011533506.1:n.682-2A>C | |
| XM_011535205.1:c.682-2A>C | XP_011533507.1:n.682-2A>C | |
| NM_000059.4:c.682-2A>C MANE Select | NP_000050.3:n.682-2A>C |