Linked Data
ClinVar Variation Id:
191767
ClinVar RCV Id:
RCV000172095
dbSNP Id:
rs200576075
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73171031C>T , CM000676.2:g.73171031C>T | GRCh38 |
| NC_000014.8:g.73637739C>T , CM000676.1:g.73637739C>T | GRCh37 |
| NC_000014.7:g.72707492C>T | NCBI36 |
| NG_007386.2:g.39561C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324501.10:c.322C>T MANE Select | ENSP00000326366.5:p.Arg108Trp | |
| ENST00000324501.9:c.322C>T | ENSP00000326366.5:p.Arg108Trp | |
| ENST00000357710.8:c.310C>T | ENSP00000350342.4:p.Arg104Trp | |
| ENST00000394157.7:c.322C>T | ENSP00000377712.3:p.Arg108Trp | |
| ENST00000394164.5:c.310C>T | ENSP00000377719.1:p.Arg104Trp | |
| ENST00000406768.1:c.46C>T | ENSP00000385948.1:p.Arg16Trp | |
| ENST00000553719.5:c.310C>T | ENSP00000451674.1:p.Arg104Trp | |
| ENST00000553855.5:c.322C>T | ENSP00000452242.1:p.Arg108Trp | |
| ENST00000554131.5:c.322C>T | ENSP00000451915.1:p.Arg108Trp | |
| ENST00000555254.5:c.322C>T | ENSP00000450652.1:p.Arg108Trp | |
| ENST00000555386.5:c.310C>T | ENSP00000450845.1:p.Arg104Trp | |
| ENST00000557356.5:c.310C>T | ENSP00000451498.1:p.Arg104Trp | |
| ENST00000557511.5:c.322C>T | ENSP00000451429.1:p.Arg108Trp | |
| ENST00000559361.5:c.*266C>T | ENSP00000454156.1:n.*266C>T | |
| ENST00000560005.6:c.310C>T | ENSP00000453466.1:p.Arg104Trp | |
| NM_000021.3:c.322C>T | NP_000012.1:p.Arg108Trp | |
| NM_007318.2:c.310C>T | NP_015557.2:p.Arg104Trp | |
| XM_005267864.1:c.322C>T | XP_005267921.1:p.Arg108Trp | |
| XM_005267866.1:c.310C>T | XP_005267923.1:p.Arg104Trp | |
| XM_011536971.1:c.322C>T | XP_011535273.1:p.Arg108Trp | |
| XM_011536972.1:c.322C>T | XP_011535274.1:p.Arg108Trp | |
| XM_011536973.1:c.310C>T | XP_011535275.1:p.Arg104Trp | |
| XM_011536974.1:c.310C>T | XP_011535276.1:p.Arg104Trp | |
| XM_005267864.3:c.322C>T | XP_005267921.1:p.Arg108Trp | |
| XM_005267866.2:c.310C>T | XP_005267923.1:p.Arg104Trp | |
| XM_011536972.2:c.322C>T | XP_011535274.1:p.Arg108Trp | |
| XM_011536973.2:c.310C>T | XP_011535275.1:p.Arg104Trp | |
| XM_011536974.2:c.310C>T | XP_011535276.1:p.Arg104Trp | |
| NM_000021.4:c.322C>T MANE Select | NP_000012.1:p.Arg108Trp | |
| NM_007318.3:c.310C>T | NP_015557.2:p.Arg104Trp |