Linked Data
ClinVar Variation Id:
305740
dbSNP Id:
rs199543483
ExAC:
11:67376072 C / T
gnomAD v2:
11-67376072-C-T
gnomAD v3:
11-67608601-C-T
gnomAD v4:
11-67608601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67608601C>T , CM000673.2:g.67608601C>T | GRCh38 |
| NC_000011.9:g.67376072C>T , CM000673.1:g.67376072C>T | GRCh37 |
| NC_000011.8:g.67132648C>T | NCBI36 |
| NG_013353.1:g.6750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.205C>T MANE Select | ENSP00000322450.6:p.Leu69= | |
| ENST00000647561.1:c.205C>T | ENSP00000497587.1:p.Leu69= | |
| ENST00000322776.10:c.205C>T | ENSP00000322450.6:p.Leu69= | |
| ENST00000415352.6:c.184C>T | ENSP00000395368.2:p.Leu62= | |
| ENST00000524838.5:n.262C>T | ||
| ENST00000524876.5:n.517C>T | ||
| ENST00000525086.5:n.252C>T | ||
| ENST00000526770.5:n.64C>T | ||
| ENST00000528314.1:c.-99C>T | ENSP00000434581.1:n.-99C>T | |
| ENST00000528328.1:c.154C>T | ENSP00000436906.1:p.Leu52= | |
| ENST00000528377.1:n.376C>T | ||
| ENST00000528548.5:n.574C>T | ||
| ENST00000529867.5:c.169C>T | ENSP00000434438.1:p.Leu57= | |
| ENST00000529927.5:c.178C>T | ENSP00000436766.1:p.Leu60= | |
| ENST00000530014.5:n.500C>T | ||
| ENST00000530103.5:c.*99C>T | ENSP00000434575.1:n.*99C>T | |
| ENST00000530638.1:c.88C>T | ENSP00000436936.1:p.Leu30= | |
| ENST00000532244.5:c.-99C>T | ENSP00000435202.1:n.-99C>T | |
| ENST00000532303.5:c.-99C>T | ENSP00000432015.1:n.-99C>T | |
| ENST00000532343.5:c.-99C>T | ENSP00000431751.1:n.-99C>T | |
| ENST00000533075.5:c.184C>T | ENSP00000437267.1:p.Leu62= | |
| ENST00000534139.5:n.321C>T | ||
| NM_001166102.1:c.178C>T | NP_001159574.1:p.Leu60= | |
| NM_007103.3:c.205C>T | NP_009034.2:p.Leu69= | |
| NM_001166102.2:c.178C>T | NP_001159574.1:p.Leu60= | |
| NM_007103.4:c.205C>T MANE Select | NP_009034.2:p.Leu69= |