Linked Data
gnomAD v4:
11-67611431-C-T
COSMIC:
COSM3452348
MyVariant Identifiers:
chr11:g.67378902C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611431C>T , CM000673.2:g.67611431C>T | GRCh38 |
| NC_000011.9:g.67378902C>T , CM000673.1:g.67378902C>T | GRCh37 |
| NC_000011.8:g.67135478C>T | NCBI36 |
| NG_013353.1:g.9580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.942C>T MANE Select | ENSP00000322450.6:p.Leu314= | |
| ENST00000647561.1:c.942C>T | ENSP00000497587.1:p.Leu314= | |
| ENST00000322776.10:c.942C>T | ENSP00000322450.6:p.Leu314= | |
| ENST00000415352.6:c.921C>T | ENSP00000395368.2:p.Leu307= | |
| ENST00000526169.1:n.656-91C>T | ||
| ENST00000526770.5:n.1225C>T | ||
| ENST00000527355.5:c.231C>T | ENSP00000432637.1:p.Leu77= | |
| ENST00000527923.1:n.284C>T | ||
| ENST00000529927.5:c.915C>T | ENSP00000436766.1:p.Leu305= | |
| ENST00000532303.5:c.639C>T | ENSP00000432015.1:p.Leu213= | |
| ENST00000533919.5:c.392-46C>T | ENSP00000435199.1:n.392-46C>T | |
| NM_001166102.1:c.915C>T | NP_001159574.1:p.Leu305= | |
| NM_007103.3:c.942C>T | NP_009034.2:p.Leu314= | |
| NM_001166102.2:c.915C>T | NP_001159574.1:p.Leu305= | |
| NM_007103.4:c.942C>T MANE Select | NP_009034.2:p.Leu314= |