ClinVar Variation:
dbSNP:
Revel Score:
ENST00000361874
0.886
ENST00000394003
0.886
ENST00000393999
0.886
ENST00000409240
0.886
ENST00000409868
0.886
ENST00000409567
0.886
ENST00000458655
0.886
ENST00000454119
0.886
ENST00000417090
0.886
ENST00000437375
0.886
ENST00000413111
0.886
ENST00000421392
0.886
ENST00000440727
0.886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74378123A>C , CM000664.2:g.74378123A>C | GRCh38 |
| NC_000002.11:g.74605250A>C , CM000664.1:g.74605250A>C | GRCh37 |
| NC_000002.10:g.74458758A>C | NCBI36 |
| NG_008735.2:g.18965T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.156T>G | ENSP00000354791.4:p.Phe52Leu | |
| ENST00000628224.3:c.156T>G MANE Select | ENSP00000487279.2:p.Phe52Leu | |
| ENST00000680606.1:c.105T>G | ENSP00000505612.1:p.Phe35Leu | |
| ENST00000361874.7:c.156T>G | ENSP00000354791.3:p.Phe52Leu | |
| ENST00000394003.7:c.156T>G | ENSP00000377571.3:p.Phe52Leu | |
| ENST00000409240.5:c.105T>G | ENSP00000386406.1:p.Phe35Leu | |
| ENST00000409567.7:c.156T>G | ENSP00000386843.3:p.Phe52Leu | |
| ENST00000409868.5:c.105T>G | ENSP00000387327.1:p.Phe35Leu | |
| ENST00000413111.5:c.105T>G | ENSP00000413268.1:p.Phe35Leu | |
| ENST00000417090.1:c.168T>G | ENSP00000402509.1:p.Phe56Leu | |
| ENST00000421392.1:c.105T>G | ENSP00000409363.1:p.Phe35Leu | |
| ENST00000434055.5:c.105T>G | ENSP00000416711.1:p.Phe35Leu | |
| ENST00000437375.1:c.105T>G | ENSP00000395312.1:p.Phe35Leu | |
| ENST00000440727.1:c.105T>G | ENSP00000400059.1:p.Phe35Leu | |
| ENST00000454119.5:c.105T>G | ENSP00000404038.1:p.Phe35Leu | |
| ENST00000458655.5:c.177T>G | ENSP00000414315.1:p.Phe59Leu | |
| ENST00000628224.2:c.105T>G | ENSP00000487279.1:p.Phe35Leu | |
| NM_001135040.2:c.156T>G | NP_001128512.1:p.Phe52Leu | |
| NM_001190836.1:c.105T>G | NP_001177765.1:p.Phe35Leu | |
| NM_001190837.1:c.156T>G | NP_001177766.1:p.Phe52Leu | |
| NM_004082.4:c.156T>G | NP_004073.2:p.Phe52Leu | |
| NR_033935.1:n.417T>G | ||
| NM_001135040.3:c.156T>G | NP_001128512.1:p.Phe52Leu | |
| NM_001190836.2:c.105T>G | NP_001177765.1:p.Phe35Leu | |
| NM_001190837.2:c.156T>G | NP_001177766.1:p.Phe52Leu | |
| NM_001378991.1:c.105T>G | NP_001365920.1:p.Phe35Leu | |
| NM_001378992.1:c.105T>G | NP_001365921.1:p.Phe35Leu | |
| NM_004082.5:c.156T>G MANE Select | NP_004073.2:p.Phe52Leu | |
| NR_033935.2:n.196T>G |