Linked Data
ClinVar Variation Id:
647774
dbSNP Id:
rs768360710
ExAC:
14:65543211 G / A
gnomAD v2:
14-65543211-G-A
gnomAD v3:
14-65076493-G-A
gnomAD v4:
14-65076493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076493G>A , CM000676.2:g.65076493G>A | GRCh38 |
| NC_000014.8:g.65543211G>A , CM000676.1:g.65543211G>A | GRCh37 |
| NC_000014.7:g.64612964G>A | NCBI36 |
| NG_029830.1:g.31017C>T , LRG_530:g.31017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.247C>T | ENSP00000452206.2:p.Arg83Trp | |
| ENST00000556979.6:c.*919C>T | ENSP00000452378.1:n.*919C>T | |
| ENST00000358664.9:c.466C>T MANE Select | ENSP00000351490.4:p.Arg156Trp | |
| ENST00000651648.1:c.145-6124C>T | ENSP00000498863.1:n.145-6124C>T | |
| ENST00000284165.10:c.*1310C>T | ENSP00000284165.6:n.*1310C>T | |
| ENST00000341653.6:c.171+17215C>T | ENSP00000342482.2:n.171+17215C>T | |
| ENST00000358402.8:c.439C>T | ENSP00000351175.4:p.Arg147Trp | |
| ENST00000358664.8:c.466C>T | ENSP00000351490.4:p.Arg156Trp | |
| ENST00000394606.6:c.*239C>T | ENSP00000378104.2:n.*239C>T | |
| ENST00000553928.5:c.*255C>T | ENSP00000451907.1:n.*255C>T | |
| ENST00000555419.5:c.358C>T | ENSP00000452405.1:p.Arg120Trp | |
| ENST00000555932.5:c.207C>T | ENSP00000450763.1:p.Ser69= | |
| ENST00000557277.5:c.277C>T | ENSP00000450955.1:p.Arg93Trp | |
| ENST00000618858.4:c.*255C>T | ENSP00000480127.1:n.*255C>T | |
| NM_001271069.1:c.144+17215C>T | NP_001257998.1:n.144+17215C>T | |
| NM_002382.4:c.466C>T | NP_002373.3:p.Arg156Trp | |
| NM_145112.2:c.439C>T | NP_660087.1:p.Arg147Trp | |
| NM_145113.2:c.*255C>T | NP_660088.1:n.*255C>T | |
| NM_197957.3:c.171+17215C>T | NP_932061.1:n.171+17215C>T | |
| NR_073137.1:n.590C>T | ||
| XR_429315.2:n.753C>T | ||
| NM_001320415.1:c.277C>T | NP_001307344.1:p.Arg93Trp | |
| XM_017021312.2:c.277C>T | XP_016876801.1:p.Arg93Trp | |
| XM_017021313.1:c.277C>T | XP_016876802.1:p.Arg93Trp | |
| XR_001750326.2:n.811C>T | ||
| XR_001750327.2:n.730C>T | ||
| XR_002957553.1:n.1244C>T | ||
| XR_943450.3:n.834C>T | ||
| XR_943451.3:n.850C>T | ||
| XR_943452.3:n.795C>T | ||
| NM_001320415.2:c.277C>T | NP_001307344.1:p.Arg93Trp | |
| NM_002382.5:c.466C>T MANE Select | NP_002373.3:p.Arg156Trp | |
| NM_145112.3:c.439C>T | NP_660087.1:p.Arg147Trp | |
| NM_145113.3:c.*255C>T | NP_660088.1:n.*255C>T | |
| NM_001271069.2:c.144+17215C>T | NP_001257998.1:n.144+17215C>T | |
| NM_197957.4:c.171+17215C>T | NP_932061.1:n.171+17215C>T |