Linked Data
ClinVar Variation Id:
208815
dbSNP Id:
rs754875934
ExAC:
8:43013853 A / T
gnomAD v2:
8-43013853-A-T
gnomAD v3:
8-43158710-A-T
gnomAD v4:
8-43158710-A-T
PubMed:
PMID:25859010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43158710A>T , CM000670.2:g.43158710A>T | GRCh38 |
| NC_000008.10:g.43013853A>T , CM000670.1:g.43013853A>T | GRCh37 |
| NC_000008.9:g.43133010A>T | NCBI36 |
| NG_009552.1:g.23262A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.370A>T MANE Select | ENSP00000368965.4:p.Arg124Trp | |
| ENST00000379644.8:c.370A>T | ENSP00000368965.4:p.Arg124Trp | |
| ENST00000517319.1:c.235-213A>T | ENSP00000430032.1:n.235-213A>T | |
| ENST00000520704.1:c.220A>T | ENSP00000429109.1:p.Arg74Trp | |
| NM_152419.2:c.370A>T | NP_689632.2:p.Arg124Trp | |
| XM_005273409.1:c.370A>T | XP_005273466.1:p.Arg124Trp | |
| XM_005273410.1:c.370A>T | XP_005273467.1:p.Arg124Trp | |
| XM_005273411.1:c.370A>T | XP_005273468.1:p.Arg124Trp | |
| XM_005273412.2:c.370A>T | XP_005273469.1:p.Arg124Trp | |
| NM_001363227.1:c.370A>T | NP_001350156.1:p.Arg124Trp | |
| NM_001363228.1:c.370A>T | NP_001350157.1:p.Arg124Trp | |
| NM_001363229.1:c.-464A>T | NP_001350158.1:n.-464A>T | |
| XM_005273412.4:c.370A>T | XP_005273469.1:p.Arg124Trp | |
| NM_152419.3:c.370A>T MANE Select | NP_689632.2:p.Arg124Trp | |
| NM_001363227.2:c.370A>T | NP_001350156.1:p.Arg124Trp | |
| NM_001363228.2:c.370A>T | NP_001350157.1:p.Arg124Trp | |
| NM_001363229.2:c.-464A>T | NP_001350158.1:n.-464A>T |