Linked Data
ClinVar Variation Id:
1018255
ClinVar RCV Id:
RCV001317528
dbSNP Id:
rs782149318
ExAC:
X:48546713 C / T
gnomAD v2:
X-48546713-C-T
gnomAD v3:
X-48688324-C-T
gnomAD v4:
X-48688324-C-T
COSMIC:
COSM2966515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688324C>T , CM000685.2:g.48688324C>T | GRCh38 |
| NC_000023.10:g.48546713C>T , CM000685.1:g.48546713C>T | GRCh37 |
| NC_000023.9:g.48431657C>T | NCBI36 |
| NG_007877.1:g.9528C>T , LRG_125:g.9528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.46C>T | ||
| ENST00000483750.6:n.1038C>T | ||
| ENST00000698625.1:c.802C>T | ENSP00000513844.1:p.Arg268Trp | |
| ENST00000698626.1:c.802C>T | ENSP00000513845.1:p.Arg268Trp | |
| ENST00000698635.1:c.802C>T | ENSP00000513850.1:p.Arg268Trp | |
| ENST00000376701.5:c.802C>T MANE Select | ENSP00000365891.4:p.Arg268Trp | |
| ENST00000376701.4:c.802C>T | ENSP00000365891.4:p.Arg268Trp | |
| ENST00000474174.1:n.46C>T | ||
| NM_000377.2:c.802C>T , LRG_125t1:c.802C>T | NP_000368.1:p.Arg268Trp | |
| XM_011543977.1:c.802C>T | XP_011542279.1:p.Arg268Trp | |
| XM_011543977.2:c.802C>T | XP_011542279.1:p.Arg268Trp | |
| XM_017029786.1:c.802C>T | XP_016885275.1:p.Arg268Trp | |
| NM_000377.3:c.802C>T MANE Select | NP_000368.1:p.Arg268Trp |