Linked Data
ClinVar Variation Id:
2369768
ClinVar RCV Id:
RCV004207470
dbSNP Id:
rs782403819
ExAC:
X:135047274 C / T
gnomAD v2:
X-135047274-C-T
gnomAD v3:
X-135965115-C-T
gnomAD v4:
X-135965115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135965115C>T , CM000685.2:g.135965115C>T | GRCh38 |
| NC_000023.10:g.135047274C>T , CM000685.1:g.135047274C>T | GRCh37 |
| NC_000023.9:g.134874940C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680510.2:c.*102G>A | ENSP00000505521.1:n.*102G>A | |
| ENST00000305963.3:c.305G>A MANE Select | ENSP00000306220.2:p.Arg102Gln | |
| ENST00000679621.1:c.305G>A | ENSP00000505226.1:p.Arg102Gln | |
| ENST00000680510.1:c.*102G>A | ENSP00000505521.1:n.*102G>A | |
| ENST00000681201.1:c.*60G>A | ENSP00000506673.1:n.*60G>A | |
| ENST00000305963.2:c.305G>A | ENSP00000306220.2:p.Arg102Gln | |
| NM_173470.1:c.305G>A | NP_775741.1:p.Arg102Gln | |
| NM_001330000.1:c.305G>A | NP_001316929.1:p.Arg102Gln | |
| NM_173470.2:c.305G>A | NP_775741.1:p.Arg102Gln | |
| NM_001330000.2:c.305G>A | NP_001316929.1:p.Arg102Gln | |
| NM_173470.3:c.305G>A MANE Select | NP_775741.1:p.Arg102Gln |