Linked Data
ClinVar Variation Id:
185969
dbSNP Id:
rs786202598
gnomAD v2:
16-68863632-C-T
gnomAD v3:
16-68829729-C-T
gnomAD v4:
16-68829729-C-T
PubMed:
PMID:22850631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829729C>T , CM000678.2:g.68829729C>T | GRCh38 |
| NC_000016.9:g.68863632C>T , CM000678.1:g.68863632C>T | GRCh37 |
| NC_000016.8:g.67421133C>T | NCBI36 |
| NG_008021.1:g.97438C>T , LRG_301:g.97438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2371C>T MANE Select | ENSP00000261769.4:p.Leu791Phe | |
| ENST00000261769.9:c.2371C>T | ENSP00000261769.4:p.Leu791Phe | |
| ENST00000422392.6:c.2188C>T | ENSP00000414946.2:p.Leu730Phe | |
| ENST00000562118.1:n.589C>T | ||
| ENST00000562836.5:n.2442C>T | ||
| ENST00000566510.5:c.*1037C>T | ENSP00000458139.1:n.*1037C>T | |
| ENST00000566612.5:c.*611C>T | ENSP00000454782.1:n.*611C>T | |
| ENST00000611625.4:c.2434C>T | ENSP00000481063.1:p.Leu812Phe | |
| ENST00000612417.4:c.1853+3175C>T | ENSP00000478360.1:n.1853+3175C>T | |
| ENST00000621016.4:c.1866-4474C>T | ENSP00000480664.1:n.1866-4474C>T | |
| NM_004360.3:c.2371C>T , LRG_301t1:c.2371C>T | NP_004351.1:p.Leu791Phe | |
| XM_011523488.1:c.1636C>T | XP_011521790.1:p.Leu546Phe | |
| XM_011523489.1:c.1636C>T | XP_011521791.1:p.Leu546Phe | |
| NM_001317184.1:c.2188C>T | NP_001304113.1:p.Leu730Phe | |
| NM_001317185.1:c.823C>T | NP_001304114.1:p.Leu275Phe | |
| NM_001317186.1:c.406C>T | NP_001304115.1:p.Leu136Phe | |
| NM_004360.4:c.2371C>T | NP_004351.1:p.Leu791Phe | |
| NM_004360.5:c.2371C>T MANE Select | NP_004351.1:p.Leu791Phe | |
| NM_001317184.2:c.2188C>T | NP_001304113.1:p.Leu730Phe | |
| NM_001317185.2:c.823C>T | NP_001304114.1:p.Leu275Phe | |
| NM_001317186.2:c.406C>T | NP_001304115.1:p.Leu136Phe |