Linked Data
ClinVar Variation Id:
427107
ClinVar RCV Id:
RCV000489065
dbSNP Id:
rs1085307962
gnomAD v4:
X-67711404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711404C>T , CM000685.2:g.67711404C>T | GRCh38 |
| NC_000023.10:g.66931246C>T , CM000685.1:g.66931246C>T | GRCh37 |
| NC_000023.9:g.66847971C>T | NCBI36 |
| NG_009014.2:g.172373C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*236C>T | ENSP00000379358.4:n.*236C>T | |
| ENST00000374690.9:c.1888C>T MANE Select | ENSP00000363822.3:p.Arg630Trp | |
| ENST00000396043.3:c.515C>T | ENSP00000379358.3:n.515C>T | |
| ENST00000396044.8:c.1888C>T | ENSP00000379359.3:p.Arg630Trp | |
| ENST00000612452.5:c.1888C>T | ENSP00000484033.2:p.Arg630Trp | |
| ENST00000374690.7:c.1888C>T | ENSP00000363822.3:p.Arg630Trp | |
| ENST00000396043.2:c.292C>T | ENSP00000379358.2:p.Arg98Trp | |
| ENST00000396044.7:c.1888C>T | ENSP00000379359.3:p.Arg630Trp | |
| ENST00000612452.4:c.1318C>T | ENSP00000484033.1:p.Arg440Trp | |
| NM_000044.3:c.1888C>T | NP_000035.2:p.Arg630Trp | |
| NM_001011645.2:c.292C>T | NP_001011645.1:p.Arg98Trp | |
| NM_000044.4:c.1888C>T | NP_000035.2:p.Arg630Trp | |
| NM_001011645.3:c.292C>T | NP_001011645.1:p.Arg98Trp | |
| NM_000044.6:c.1888C>T MANE Select | NP_000035.2:p.Arg630Trp |