Linked Data
ClinVar Variation Id:
1937653
ClinVar RCV Id:
RCV002653372
dbSNP Id:
rs767190007
ExAC:
11:67257700 C / G
gnomAD v2:
11-67257700-C-G
gnomAD v4:
11-67490229-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490229C>G , CM000673.2:g.67490229C>G | GRCh38 |
| NC_000011.9:g.67257700C>G , CM000673.1:g.67257700C>G | GRCh37 |
| NC_000011.8:g.67014276C>G | NCBI36 |
| NG_008969.1:g.12196C>G , LRG_460:g.12196C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.622+15C>G | ||
| ENST00000528641.7:c.456+15C>G | ENSP00000434982.3:n.456+15C>G | |
| ENST00000529797.2:n.1157+15C>G | ||
| ENST00000682324.1:c.469-768C>G | ENSP00000508017.1:n.469-768C>G | |
| ENST00000682659.1:c.276+15C>G | ENSP00000507351.1:n.276+15C>G | |
| ENST00000682699.1:c.645+15C>G | ENSP00000507935.1:n.645+15C>G | |
| ENST00000683237.1:c.645+15C>G | ENSP00000507343.1:n.645+15C>G | |
| ENST00000683856.1:c.468+15C>G | ENSP00000507979.1:n.468+15C>G | |
| ENST00000684006.1:c.645+15C>G | ENSP00000507269.1:n.645+15C>G | |
| ENST00000684657.1:c.465+15C>G | ENSP00000507961.1:n.465+15C>G | |
| ENST00000279146.8:c.645+15C>G MANE Select | ENSP00000279146.3:n.645+15C>G | |
| ENST00000279146.7:c.645+15C>G | ENSP00000279146.3:n.645+15C>G | |
| ENST00000525341.1:c.297+15C>G | ENSP00000476993.1:n.297+15C>G | |
| ENST00000528641.6:c.456+15C>G | ENSP00000434982.2:n.456+15C>G | |
| NM_001302959.1:c.468+15C>G | NP_001289888.1:n.468+15C>G | |
| NM_001302960.1:c.645+15C>G | NP_001289889.1:n.645+15C>G | |
| NM_003977.3:c.645+15C>G | NP_003968.3:n.645+15C>G | |
| XM_024448761.1:c.645+15C>G | XP_024304529.1:n.645+15C>G | |
| NM_003977.4:c.645+15C>G MANE Select | NP_003968.3:n.645+15C>G | |
| NM_001302960.2:c.645+15C>G | NP_001289889.1:n.645+15C>G | |
| NM_001302959.2:c.468+15C>G | NP_001289888.1:n.468+15C>G |