Linked Data
dbSNP Id:
rs1314875885
gnomAD v2:
11-1780824-A-G
gnomAD v3:
11-1759594-A-G
gnomAD v4:
11-1759594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1759594A>G , CM000673.2:g.1759594A>G | GRCh38 |
| NC_000011.9:g.1780824A>G , CM000673.1:g.1780824A>G | GRCh37 |
| NC_000011.8:g.1737400A>G | NCBI36 |
| NG_008655.1:g.9399T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.274T>C MANE Select | ENSP00000236671.2:p.Phe92Leu | |
| ENST00000367196.4:c.169T>C | ENSP00000356164.4:p.Phe57Leu | |
| ENST00000429746.2:c.169T>C | ENSP00000402586.2:p.Phe57Leu | |
| ENST00000433655.6:c.274T>C | ENSP00000404902.1:p.Phe92Leu | |
| ENST00000438213.6:c.274T>C | ENSP00000415036.2:p.Phe92Leu | |
| ENST00000636397.1:c.274T>C | ENSP00000489910.1:p.Phe92Leu | |
| ENST00000636571.1:c.253T>C | ENSP00000490770.1:p.Phe85Leu | |
| ENST00000636615.1:c.274T>C | ENSP00000490014.1:p.Phe92Leu | |
| ENST00000636843.1:c.268T>C | ENSP00000490897.1:p.Phe90Leu | |
| ENST00000637381.2:n.2702T>C | ||
| ENST00000637387.1:c.274T>C | ENSP00000490598.1:p.Phe92Leu | |
| ENST00000637815.2:c.274T>C | ENSP00000490344.1:p.Phe92Leu | |
| ENST00000637915.1:c.274T>C | ENSP00000490471.1:p.Phe92Leu | |
| ENST00000677300.1:n.669T>C | ||
| ENST00000678991.1:c.*135T>C | ENSP00000503019.1:n.*135T>C | |
| ENST00000236671.6:c.274T>C | ENSP00000236671.2:p.Phe92Leu | |
| ENST00000367196.3:c.169T>C | ENSP00000356164.3:p.Phe57Leu | |
| ENST00000433655.5:c.274T>C | ENSP00000404902.1:p.Phe92Leu | |
| ENST00000438213.5:c.229T>C | ENSP00000415036.1:p.Phe77Leu | |
| NM_001909.4:c.274T>C | NP_001900.1:p.Phe92Leu | |
| NM_001909.5:c.274T>C MANE Select | NP_001900.1:p.Phe92Leu |