Linked Data
ClinVar Variation Id:
1977076
ClinVar RCV Id:
RCV002736450
dbSNP Id:
rs1382081925
gnomAD v2:
11-67257553-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490082A>G , CM000673.2:g.67490082A>G | GRCh38 |
| NC_000011.9:g.67257553A>G , CM000673.1:g.67257553A>G | GRCh37 |
| NC_000011.8:g.67014129A>G | NCBI36 |
| NG_008969.1:g.12049A>G , LRG_460:g.12049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.490A>G | ||
| ENST00000528641.7:c.324A>G | ENSP00000434982.3:p.Thr108= | |
| ENST00000529797.2:n.1025A>G | ||
| ENST00000682324.1:c.468+627A>G | ENSP00000508017.1:n.468+627A>G | |
| ENST00000682659.1:c.144A>G | ENSP00000507351.1:p.Thr48= | |
| ENST00000682699.1:c.513A>G | ENSP00000507935.1:p.Thr171= | |
| ENST00000683237.1:c.513A>G | ENSP00000507343.1:p.Thr171= | |
| ENST00000683856.1:c.336A>G | ENSP00000507979.1:p.Thr112= | |
| ENST00000684006.1:c.513A>G | ENSP00000507269.1:p.Thr171= | |
| ENST00000684657.1:c.333A>G | ENSP00000507961.1:p.Thr111= | |
| ENST00000279146.8:c.513A>G MANE Select | ENSP00000279146.3:p.Thr171= | |
| ENST00000279146.7:c.513A>G | ENSP00000279146.3:p.Thr171= | |
| ENST00000525341.1:c.165A>G | ENSP00000476993.1:p.Thr55= | |
| ENST00000528641.6:c.324A>G | ENSP00000434982.2:p.Thr108= | |
| NM_001302959.1:c.336A>G | NP_001289888.1:p.Thr112= | |
| NM_001302960.1:c.513A>G | NP_001289889.1:p.Thr171= | |
| NM_003977.3:c.513A>G | NP_003968.3:p.Thr171= | |
| XM_024448761.1:c.513A>G | XP_024304529.1:p.Thr171= | |
| NM_003977.4:c.513A>G MANE Select | NP_003968.3:p.Thr171= | |
| NM_001302960.2:c.513A>G | NP_001289889.1:p.Thr171= | |
| NM_001302959.2:c.336A>G | NP_001289888.1:p.Thr112= |