Linked Data
ClinVar Variation Id:
41171
ClinVar RCV Id:
RCV000034070
dbSNP Id:
rs267606544
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489266G>A , CM000673.2:g.67489266G>A | GRCh38 |
| NC_000011.9:g.67256737G>A , CM000673.1:g.67256737G>A | GRCh37 |
| NC_000011.8:g.67013313G>A | NCBI36 |
| NG_008969.1:g.11233G>A , LRG_460:g.11233G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.257-1G>A | ||
| ENST00000528641.7:c.280-772G>A | ENSP00000434982.3:n.280-772G>A | |
| ENST00000529797.2:n.210-1G>A | ||
| ENST00000682324.1:c.280-1G>A | ENSP00000508017.1:n.280-1G>A | |
| ENST00000682659.1:c.100-772G>A | ENSP00000507351.1:n.100-772G>A | |
| ENST00000682699.1:c.280-1G>A | ENSP00000507935.1:n.280-1G>A | |
| ENST00000683237.1:c.280-1G>A | ENSP00000507343.1:n.280-1G>A | |
| ENST00000683856.1:c.103-1G>A | ENSP00000507979.1:n.103-1G>A | |
| ENST00000684006.1:c.280-1G>A | ENSP00000507269.1:n.280-1G>A | |
| ENST00000684657.1:c.100-1G>A | ENSP00000507961.1:n.100-1G>A | |
| ENST00000279146.8:c.280-1G>A MANE Select | ENSP00000279146.3:n.280-1G>A | |
| ENST00000279146.7:c.280-1G>A | ENSP00000279146.3:n.280-1G>A | |
| ENST00000528641.6:c.280-772G>A | ENSP00000434982.2:n.280-772G>A | |
| ENST00000529797.1:n.390-1G>A | ||
| NM_001302959.1:c.103-1G>A | NP_001289888.1:n.103-1G>A | |
| NM_001302960.1:c.280-1G>A | NP_001289889.1:n.280-1G>A | |
| NM_003977.3:c.280-1G>A | NP_003968.3:n.280-1G>A | |
| XM_024448761.1:c.280-1G>A | XP_024304529.1:n.280-1G>A | |
| NM_003977.4:c.280-1G>A MANE Select | NP_003968.3:n.280-1G>A | |
| NM_001302960.2:c.280-1G>A | NP_001289889.1:n.280-1G>A | |
| NM_001302959.2:c.103-1G>A | NP_001289888.1:n.103-1G>A |