Linked Data
ClinVar Variation Id:
305752
dbSNP Id:
rs371426372
ExAC:
11:67378977 C / T
gnomAD v2:
11-67378977-C-T
gnomAD v3:
11-67611506-C-T
gnomAD v4:
11-67611506-C-T
COSMIC:
COSM931140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611506C>T , CM000673.2:g.67611506C>T | GRCh38 |
| NC_000011.9:g.67378977C>T , CM000673.1:g.67378977C>T | GRCh37 |
| NC_000011.8:g.67135553C>T | NCBI36 |
| NG_013353.1:g.9655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1017C>T MANE Select | ENSP00000322450.6:p.Phe339= | |
| ENST00000647561.1:c.1017C>T | ENSP00000497587.1:p.Phe339= | |
| ENST00000322776.10:c.1017C>T | ENSP00000322450.6:p.Phe339= | |
| ENST00000415352.6:c.996C>T | ENSP00000395368.2:p.Phe332= | |
| ENST00000526169.1:n.656-16C>T | ||
| ENST00000526770.5:n.1300C>T | ||
| ENST00000527355.5:c.306C>T | ENSP00000432637.1:p.Phe102= | |
| ENST00000527923.1:n.359C>T | ||
| ENST00000529927.5:c.990C>T | ENSP00000436766.1:p.Phe330= | |
| ENST00000532303.5:c.714C>T | ENSP00000432015.1:p.Phe238= | |
| ENST00000533919.5:c.421C>T | ENSP00000435199.1:n.421C>T | |
| NM_001166102.1:c.990C>T | NP_001159574.1:p.Phe330= | |
| NM_007103.3:c.1017C>T | NP_009034.2:p.Phe339= | |
| NM_001166102.2:c.990C>T | NP_001159574.1:p.Phe330= | |
| NM_007103.4:c.1017C>T MANE Select | NP_009034.2:p.Phe339= |