Linked Data
ClinVar Variation Id:
1768107
ClinVar RCV Id:
RCV002387120
gnomAD v4:
11-67490975-G-T
MyVariant Identifiers:
chr11:g.67258446G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490975G>T , CM000673.2:g.67490975G>T | GRCh38 |
| NC_000011.9:g.67258446G>T , CM000673.1:g.67258446G>T | GRCh37 |
| NC_000011.8:g.67015022G>T | NCBI36 |
| NG_008969.1:g.12942G>T , LRG_460:g.12942G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1282G>T | ||
| ENST00000528641.7:c.786G>T | ENSP00000434982.3:p.Arg262= | |
| ENST00000529797.2:n.1817G>T | ||
| ENST00000682324.1:c.469-22G>T | ENSP00000508017.1:n.469-22G>T | |
| ENST00000682659.1:c.606G>T | ENSP00000507351.1:p.Arg202= | |
| ENST00000683237.1:c.*115G>T | ENSP00000507343.1:n.*115G>T | |
| ENST00000683856.1:c.798G>T | ENSP00000507979.1:p.Arg266= | |
| ENST00000684006.1:c.*115G>T | ENSP00000507269.1:n.*115G>T | |
| ENST00000684657.1:c.795G>T | ENSP00000507961.1:p.Arg265= | |
| ENST00000279146.8:c.975G>T MANE Select | ENSP00000279146.3:p.Arg325= | |
| ENST00000279146.7:c.975G>T | ENSP00000279146.3:p.Arg325= | |
| NM_001302959.1:c.798G>T | NP_001289888.1:p.Arg266= | |
| NM_001302960.1:c.*115G>T | NP_001289889.1:n.*115G>T | |
| NM_003977.3:c.975G>T | NP_003968.3:p.Arg325= | |
| XM_024448761.1:c.975G>T | XP_024304529.1:p.Arg325= | |
| NM_003977.4:c.975G>T MANE Select | NP_003968.3:p.Arg325= | |
| NM_001302960.2:c.*115G>T | NP_001289889.1:n.*115G>T | |
| NM_001302959.2:c.798G>T | NP_001289888.1:p.Arg266= |