Linked Data
ClinVar Variation Id:
1040281
ClinVar RCV Id:
RCV001343894
dbSNP Id:
rs778575382
ExAC:
11:67258297 G / A
gnomAD v2:
11-67258297-G-A
gnomAD v4:
11-67490826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490826G>A , CM000673.2:g.67490826G>A | GRCh38 |
| NC_000011.9:g.67258297G>A , CM000673.1:g.67258297G>A | GRCh37 |
| NC_000011.8:g.67014873G>A | NCBI36 |
| NG_008969.1:g.12793G>A , LRG_460:g.12793G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1133G>A | ||
| ENST00000528641.7:c.637G>A | ENSP00000434982.3:p.Ala213Thr | |
| ENST00000529797.2:n.1668G>A | ||
| ENST00000682324.1:c.469-171G>A | ENSP00000508017.1:n.469-171G>A | |
| ENST00000682659.1:c.457G>A | ENSP00000507351.1:p.Ala153Thr | |
| ENST00000682699.1:c.826G>A | ENSP00000507935.1:p.Ala276Thr | |
| ENST00000683237.1:c.818G>A | ENSP00000507343.1:p.Arg273His | |
| ENST00000683856.1:c.649G>A | ENSP00000507979.1:p.Ala217Thr | |
| ENST00000684006.1:c.815G>A | ENSP00000507269.1:p.Arg272His | |
| ENST00000684657.1:c.646G>A | ENSP00000507961.1:p.Ala216Thr | |
| ENST00000279146.8:c.826G>A MANE Select | ENSP00000279146.3:p.Ala276Thr | |
| ENST00000279146.7:c.826G>A | ENSP00000279146.3:p.Ala276Thr | |
| ENST00000528641.6:c.637G>A | ENSP00000434982.2:p.Ala213Thr | |
| NM_001302959.1:c.649G>A | NP_001289888.1:p.Ala217Thr | |
| NM_001302960.1:c.818G>A | NP_001289889.1:p.Arg273His | |
| NM_003977.3:c.826G>A | NP_003968.3:p.Ala276Thr | |
| XM_024448761.1:c.826G>A | XP_024304529.1:p.Ala276Thr | |
| NM_003977.4:c.826G>A MANE Select | NP_003968.3:p.Ala276Thr | |
| NM_001302960.2:c.818G>A | NP_001289889.1:p.Arg273His | |
| NM_001302959.2:c.649G>A | NP_001289888.1:p.Ala217Thr |