Linked Data
ClinVar Variation Id:
2256563
ClinVar RCV Id:
RCV002792232
dbSNP Id:
rs772228172
ExAC:
X:68049626 C / T
gnomAD v2:
X-68049626-C-T
gnomAD v3:
X-68829783-C-T
gnomAD v4:
X-68829783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829783C>T , CM000685.2:g.68829783C>T | GRCh38 |
| NC_000023.10:g.68049626C>T , CM000685.1:g.68049626C>T | GRCh37 |
| NC_000023.9:g.67966351C>T | NCBI36 |
| NG_008887.1:g.5787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.7C>T MANE Select | ENSP00000204961.4:p.Arg3Trp | |
| ENST00000204961.4:c.7C>T | ENSP00000204961.4:p.Arg3Trp | |
| NM_004429.4:c.7C>T | NP_004420.1:p.Arg3Trp | |
| NM_004429.5:c.7C>T MANE Select | NP_004420.1:p.Arg3Trp |