Linked Data
ClinVar Variation Id:
569129
ClinVar RCV Id:
RCV000689679
dbSNP Id:
rs1178559383
gnomAD v2:
16-68863689-T-C
gnomAD v4:
16-68829786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829786T>C , CM000678.2:g.68829786T>C | GRCh38 |
| NC_000016.9:g.68863689T>C , CM000678.1:g.68863689T>C | GRCh37 |
| NC_000016.8:g.67421190T>C | NCBI36 |
| NG_008021.1:g.97495T>C , LRG_301:g.97495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2428T>C MANE Select | ENSP00000261769.4:p.Phe810Leu | |
| ENST00000261769.9:c.2428T>C | ENSP00000261769.4:p.Phe810Leu | |
| ENST00000422392.6:c.2245T>C | ENSP00000414946.2:p.Phe749Leu | |
| ENST00000562118.1:n.646T>C | ||
| ENST00000562836.5:n.2499T>C | ||
| ENST00000566510.5:c.*1094T>C | ENSP00000458139.1:n.*1094T>C | |
| ENST00000566612.5:c.*668T>C | ENSP00000454782.1:n.*668T>C | |
| ENST00000611625.4:c.2491T>C | ENSP00000481063.1:p.Phe831Leu | |
| ENST00000612417.4:c.1853+3232T>C | ENSP00000478360.1:n.1853+3232T>C | |
| ENST00000621016.4:c.1866-4417T>C | ENSP00000480664.1:n.1866-4417T>C | |
| NM_004360.3:c.2428T>C , LRG_301t1:c.2428T>C | NP_004351.1:p.Phe810Leu | |
| XM_011523488.1:c.1693T>C | XP_011521790.1:p.Phe565Leu | |
| XM_011523489.1:c.1693T>C | XP_011521791.1:p.Phe565Leu | |
| NM_001317184.1:c.2245T>C | NP_001304113.1:p.Phe749Leu | |
| NM_001317185.1:c.880T>C | NP_001304114.1:p.Phe294Leu | |
| NM_001317186.1:c.463T>C | NP_001304115.1:p.Phe155Leu | |
| NM_004360.4:c.2428T>C | NP_004351.1:p.Phe810Leu | |
| NM_004360.5:c.2428T>C MANE Select | NP_004351.1:p.Phe810Leu | |
| NM_001317184.2:c.2245T>C | NP_001304113.1:p.Phe749Leu | |
| NM_001317185.2:c.880T>C | NP_001304114.1:p.Phe294Leu | |
| NM_001317186.2:c.463T>C | NP_001304115.1:p.Phe155Leu |