Linked Data
ClinVar Variation Id:
2932174
ClinVar RCV Id:
RCV003795388
dbSNP Id:
rs2062412549
gnomAD v4:
X-48684354-T-C
MyVariant Identifiers:
chrX:g.48542743T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48684354T>C , CM000685.2:g.48684354T>C | GRCh38 |
| NC_000023.10:g.48542743T>C , CM000685.1:g.48542743T>C | GRCh37 |
| NC_000023.9:g.48427687T>C | NCBI36 |
| NG_007877.1:g.5558T>C , LRG_125:g.5558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.237T>C | ||
| ENST00000698625.1:c.204T>C | ENSP00000513844.1:p.His68= | |
| ENST00000698626.1:c.204T>C | ENSP00000513845.1:p.His68= | |
| ENST00000698635.1:c.204T>C | ENSP00000513850.1:p.His68= | |
| ENST00000376701.5:c.204T>C MANE Select | ENSP00000365891.4:p.His68= | |
| ENST00000376701.4:c.204T>C | ENSP00000365891.4:p.His68= | |
| ENST00000450772.5:c.204T>C | ENSP00000410537.1:p.His68= | |
| ENST00000465982.5:n.239T>C | ||
| ENST00000483750.5:n.230T>C | ||
| NM_000377.2:c.204T>C , LRG_125t1:c.204T>C | NP_000368.1:p.His68= | |
| XM_011543977.1:c.204T>C | XP_011542279.1:p.His68= | |
| XM_011543977.2:c.204T>C | XP_011542279.1:p.His68= | |
| XM_017029786.1:c.204T>C | XP_016885275.1:p.His68= | |
| NM_000377.3:c.204T>C MANE Select | NP_000368.1:p.His68= |