Linked Data
ClinVar Variation Id:
823449
ClinVar RCV Id:
RCV003153889
dbSNP Id:
rs754619109
ExAC:
11:67258445 G / A
gnomAD v2:
11-67258445-G-A
gnomAD v3:
11-67490974-G-A
gnomAD v4:
11-67490974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490974G>A , CM000673.2:g.67490974G>A | GRCh38 |
| NC_000011.9:g.67258445G>A , CM000673.1:g.67258445G>A | GRCh37 |
| NC_000011.8:g.67015021G>A | NCBI36 |
| NG_008969.1:g.12941G>A , LRG_460:g.12941G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1281G>A | ||
| ENST00000528641.7:c.785G>A | ENSP00000434982.3:p.Arg262Gln | |
| ENST00000529797.2:n.1816G>A | ||
| ENST00000682324.1:c.469-23G>A | ENSP00000508017.1:n.469-23G>A | |
| ENST00000682659.1:c.605G>A | ENSP00000507351.1:p.Arg202Gln | |
| ENST00000683237.1:c.*114G>A | ENSP00000507343.1:n.*114G>A | |
| ENST00000683856.1:c.797G>A | ENSP00000507979.1:p.Arg266Gln | |
| ENST00000684006.1:c.*114G>A | ENSP00000507269.1:n.*114G>A | |
| ENST00000684657.1:c.794G>A | ENSP00000507961.1:p.Arg265Gln | |
| ENST00000279146.8:c.974G>A MANE Select | ENSP00000279146.3:p.Arg325Gln | |
| ENST00000279146.7:c.974G>A | ENSP00000279146.3:p.Arg325Gln | |
| NM_001302959.1:c.797G>A | NP_001289888.1:p.Arg266Gln | |
| NM_001302960.1:c.*114G>A | NP_001289889.1:n.*114G>A | |
| NM_003977.3:c.974G>A | NP_003968.3:p.Arg325Gln | |
| XM_024448761.1:c.974G>A | XP_024304529.1:p.Arg325Gln | |
| NM_003977.4:c.974G>A MANE Select | NP_003968.3:p.Arg325Gln | |
| NM_001302960.2:c.*114G>A | NP_001289889.1:n.*114G>A | |
| NM_001302959.2:c.797G>A | NP_001289888.1:p.Arg266Gln |