Linked Data
ClinVar Variation Id:
66037
dbSNP Id:
rs397515465
ExAC:
17:12917786 A / G
gnomAD v2:
17-12917786-A-G
gnomAD v4:
17-13014469-A-G
PubMed:
PMID:23849775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13014469A>G , CM000679.2:g.13014469A>G | GRCh38 |
| NC_000017.10:g.12917786A>G , CM000679.1:g.12917786A>G | GRCh37 |
| NC_000017.9:g.12858511A>G | NCBI36 |
| NG_015808.1:g.8596T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.460T>C MANE Select | ENSP00000337445.4:p.Phe154Leu | |
| ENST00000338034.8:c.460T>C | ENSP00000337445.4:p.Phe154Leu | |
| ENST00000395962.6:c.403T>C | ENSP00000379291.1:p.Phe135Leu | |
| ENST00000426905.7:c.460T>C | ENSP00000405223.3:p.Phe154Leu | |
| ENST00000484122.5:n.722T>C | ||
| ENST00000578071.1:c.433-1194T>C | ENSP00000477482.1:n.433-1194T>C | |
| ENST00000580504.5:c.178T>C | ENSP00000463594.1:p.Phe60Leu | |
| ENST00000581499.6:c.178T>C | ENSP00000463321.2:p.Phe60Leu | |
| ENST00000583371.5:c.178T>C | ENSP00000464358.1:p.Phe60Leu | |
| ENST00000609101.5:c.178T>C | ENSP00000477044.1:p.Phe60Leu | |
| ENST00000609345.1:n.257T>C | ||
| ENST00000609757.5:c.178T>C | ENSP00000477093.1:p.Phe60Leu | |
| NM_001165962.1:c.460T>C | NP_001159434.1:p.Phe154Leu | |
| NM_018127.6:c.460T>C | NP_060597.4:p.Phe154Leu | |
| NM_173717.1:c.460T>C | NP_776065.1:p.Phe154Leu | |
| XM_024450850.1:c.460T>C | XP_024306618.1:p.Phe154Leu | |
| XM_024450851.1:c.460T>C | XP_024306619.1:p.Phe154Leu | |
| XM_024450852.1:c.460T>C | XP_024306620.1:p.Phe154Leu | |
| XM_024450853.1:c.460T>C | XP_024306621.1:p.Phe154Leu | |
| XM_024450854.1:c.460T>C | XP_024306622.1:p.Phe154Leu | |
| XM_024450855.1:c.460T>C | XP_024306623.1:p.Phe154Leu | |
| XM_024450856.1:c.178T>C | XP_024306624.1:p.Phe60Leu | |
| XM_024450857.1:c.178T>C | XP_024306625.1:p.Phe60Leu | |
| XM_024450858.1:c.178T>C | XP_024306626.1:p.Phe60Leu | |
| XM_024450859.1:c.178T>C | XP_024306627.1:p.Phe60Leu | |
| XM_024450860.1:c.178T>C | XP_024306628.1:p.Phe60Leu | |
| XM_024450861.1:c.178T>C | XP_024306629.1:p.Phe60Leu | |
| XM_024450862.1:c.178T>C | XP_024306630.1:p.Phe60Leu | |
| NM_018127.7:c.460T>C MANE Select | NP_060597.4:p.Phe154Leu | |
| NM_001165962.2:c.460T>C | NP_001159434.1:p.Phe154Leu | |
| NM_173717.2:c.460T>C | NP_776065.1:p.Phe154Leu |