Linked Data
ClinVar Variation Id:
1747346
ClinVar RCV Id:
RCV002349398
MyVariant Identifiers:
chr11:g.67257580A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490109A>T , CM000673.2:g.67490109A>T | GRCh38 |
| NC_000011.9:g.67257580A>T , CM000673.1:g.67257580A>T | GRCh37 |
| NC_000011.8:g.67014156A>T | NCBI36 |
| NG_008969.1:g.12076A>T , LRG_460:g.12076A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.517A>T | ||
| ENST00000528641.7:c.351A>T | ENSP00000434982.3:p.Pro117= | |
| ENST00000529797.2:n.1052A>T | ||
| ENST00000682324.1:c.468+654A>T | ENSP00000508017.1:n.468+654A>T | |
| ENST00000682659.1:c.171A>T | ENSP00000507351.1:p.Pro57= | |
| ENST00000682699.1:c.540A>T | ENSP00000507935.1:p.Pro180= | |
| ENST00000683237.1:c.540A>T | ENSP00000507343.1:p.Pro180= | |
| ENST00000683856.1:c.363A>T | ENSP00000507979.1:p.Pro121= | |
| ENST00000684006.1:c.540A>T | ENSP00000507269.1:p.Pro180= | |
| ENST00000684657.1:c.360A>T | ENSP00000507961.1:p.Pro120= | |
| ENST00000279146.8:c.540A>T MANE Select | ENSP00000279146.3:p.Pro180= | |
| ENST00000279146.7:c.540A>T | ENSP00000279146.3:p.Pro180= | |
| ENST00000525341.1:c.192A>T | ENSP00000476993.1:p.Pro64= | |
| ENST00000528641.6:c.351A>T | ENSP00000434982.2:p.Pro117= | |
| NM_001302959.1:c.363A>T | NP_001289888.1:p.Pro121= | |
| NM_001302960.1:c.540A>T | NP_001289889.1:p.Pro180= | |
| NM_003977.3:c.540A>T | NP_003968.3:p.Pro180= | |
| XM_024448761.1:c.540A>T | XP_024304529.1:p.Pro180= | |
| NM_003977.4:c.540A>T MANE Select | NP_003968.3:p.Pro180= | |
| NM_001302960.2:c.540A>T | NP_001289889.1:p.Pro180= | |
| NM_001302959.2:c.363A>T | NP_001289888.1:p.Pro121= |