Linked Data
ClinVar Variation Id:
1078403
dbSNP Id:
rs146865791
MyVariant Identifiers:
chr11:g.67256749G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489278G>T , CM000673.2:g.67489278G>T | GRCh38 |
| NC_000011.9:g.67256749G>T , CM000673.1:g.67256749G>T | GRCh37 |
| NC_000011.8:g.67013325G>T | NCBI36 |
| NG_008969.1:g.11245G>T , LRG_460:g.11245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.268G>T | ||
| ENST00000528641.7:c.280-760G>T | ENSP00000434982.3:n.280-760G>T | |
| ENST00000529797.2:n.221G>T | ||
| ENST00000682324.1:c.291G>T | ENSP00000508017.1:p.Leu97= | |
| ENST00000682659.1:c.100-760G>T | ENSP00000507351.1:n.100-760G>T | |
| ENST00000682699.1:c.291G>T | ENSP00000507935.1:p.Leu97= | |
| ENST00000683237.1:c.291G>T | ENSP00000507343.1:p.Leu97= | |
| ENST00000683856.1:c.114G>T | ENSP00000507979.1:p.Leu38= | |
| ENST00000684006.1:c.291G>T | ENSP00000507269.1:p.Leu97= | |
| ENST00000684657.1:c.111G>T | ENSP00000507961.1:p.Leu37= | |
| ENST00000279146.8:c.291G>T MANE Select | ENSP00000279146.3:p.Leu97= | |
| ENST00000279146.7:c.291G>T | ENSP00000279146.3:p.Leu97= | |
| ENST00000528641.6:c.280-760G>T | ENSP00000434982.2:n.280-760G>T | |
| ENST00000529797.1:n.401G>T | ||
| NM_001302959.1:c.114G>T | NP_001289888.1:p.Leu38= | |
| NM_001302960.1:c.291G>T | NP_001289889.1:p.Leu97= | |
| NM_003977.3:c.291G>T | NP_003968.3:p.Leu97= | |
| XM_024448761.1:c.291G>T | XP_024304529.1:p.Leu97= | |
| NM_003977.4:c.291G>T MANE Select | NP_003968.3:p.Leu97= | |
| NM_001302960.2:c.291G>T | NP_001289889.1:p.Leu97= | |
| NM_001302959.2:c.114G>T | NP_001289888.1:p.Leu38= |