Linked Data
ClinVar Variation Id:
1448289
ClinVar RCV Id:
RCV002012114
dbSNP Id:
rs1865878548
gnomAD v3:
11-67490320-A-G
gnomAD v4:
11-67490320-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490320A>G , CM000673.2:g.67490320A>G | GRCh38 |
| NC_000011.9:g.67257791A>G , CM000673.1:g.67257791A>G | GRCh37 |
| NC_000011.8:g.67014367A>G | NCBI36 |
| NG_008969.1:g.12287A>G , LRG_460:g.12287A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.627A>G | ||
| ENST00000528641.7:c.461A>G | ENSP00000434982.3:p.Gln154Arg | |
| ENST00000529797.2:n.1162A>G | ||
| ENST00000682324.1:c.469-677A>G | ENSP00000508017.1:n.469-677A>G | |
| ENST00000682659.1:c.281A>G | ENSP00000507351.1:p.Gln94Arg | |
| ENST00000682699.1:c.650A>G | ENSP00000507935.1:p.Gln217Arg | |
| ENST00000683237.1:c.650A>G | ENSP00000507343.1:p.Gln217Arg | |
| ENST00000683856.1:c.473A>G | ENSP00000507979.1:p.Gln158Arg | |
| ENST00000684006.1:c.650A>G | ENSP00000507269.1:p.Gln217Arg | |
| ENST00000684657.1:c.470A>G | ENSP00000507961.1:p.Gln157Arg | |
| ENST00000279146.8:c.650A>G MANE Select | ENSP00000279146.3:p.Gln217Arg | |
| ENST00000279146.7:c.650A>G | ENSP00000279146.3:p.Gln217Arg | |
| ENST00000525341.1:c.302A>G | ENSP00000476993.1:p.Gln101Arg | |
| ENST00000528641.6:c.461A>G | ENSP00000434982.2:p.Gln154Arg | |
| NM_001302959.1:c.473A>G | NP_001289888.1:p.Gln158Arg | |
| NM_001302960.1:c.650A>G | NP_001289889.1:p.Gln217Arg | |
| NM_003977.3:c.650A>G | NP_003968.3:p.Gln217Arg | |
| XM_024448761.1:c.650A>G | XP_024304529.1:p.Gln217Arg | |
| NM_003977.4:c.650A>G MANE Select | NP_003968.3:p.Gln217Arg | |
| NM_001302960.2:c.650A>G | NP_001289889.1:p.Gln217Arg | |
| NM_001302959.2:c.473A>G | NP_001289888.1:p.Gln158Arg |