Linked Data
ClinVar Variation Id:
41183
ClinVar RCV Id:
RCV000034082
dbSNP Id:
rs267606556
gnomAD v4:
11-67490036-A-G
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490036A>G , CM000673.2:g.67490036A>G | GRCh38 |
| NC_000011.9:g.67257507A>G , CM000673.1:g.67257507A>G | GRCh37 |
| NC_000011.8:g.67014083A>G | NCBI36 |
| NG_008969.1:g.12003A>G , LRG_460:g.12003A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.446-2A>G | ||
| ENST00000528641.7:c.280-2A>G | ENSP00000434982.3:n.280-2A>G | |
| ENST00000529797.2:n.979A>G | ||
| ENST00000682324.1:c.468+581A>G | ENSP00000508017.1:n.468+581A>G | |
| ENST00000682659.1:c.100-2A>G | ENSP00000507351.1:n.100-2A>G | |
| ENST00000682699.1:c.469-2A>G | ENSP00000507935.1:n.469-2A>G | |
| ENST00000683237.1:c.469-2A>G | ENSP00000507343.1:n.469-2A>G | |
| ENST00000683856.1:c.292-2A>G | ENSP00000507979.1:n.292-2A>G | |
| ENST00000684006.1:c.469-2A>G | ENSP00000507269.1:n.469-2A>G | |
| ENST00000684657.1:c.289-2A>G | ENSP00000507961.1:n.289-2A>G | |
| ENST00000279146.8:c.469-2A>G MANE Select | ENSP00000279146.3:n.469-2A>G | |
| ENST00000279146.7:c.469-2A>G | ENSP00000279146.3:n.469-2A>G | |
| ENST00000525341.1:c.121-2A>G | ENSP00000476993.1:n.121-2A>G | |
| ENST00000528641.6:c.280-2A>G | ENSP00000434982.2:n.280-2A>G | |
| NM_001302959.1:c.292-2A>G | NP_001289888.1:n.292-2A>G | |
| NM_001302960.1:c.469-2A>G | NP_001289889.1:n.469-2A>G | |
| NM_003977.3:c.469-2A>G | NP_003968.3:n.469-2A>G | |
| XM_024448761.1:c.469-2A>G | XP_024304529.1:n.469-2A>G | |
| NM_003977.4:c.469-2A>G MANE Select | NP_003968.3:n.469-2A>G | |
| NM_001302960.2:c.469-2A>G | NP_001289889.1:n.469-2A>G | |
| NM_001302959.2:c.292-2A>G | NP_001289888.1:n.292-2A>G |