Linked Data
ClinVar Variation Id:
2940500
ClinVar RCV Id:
RCV003799810
gnomAD v4:
X-30308884-C-T
MyVariant Identifiers:
chrX:g.30327001C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308884C>T , CM000685.2:g.30308884C>T | GRCh38 |
| NC_000023.10:g.30327001C>T , CM000685.1:g.30327001C>T | GRCh37 |
| NC_000023.9:g.30236922C>T | NCBI36 |
| NG_009814.1:g.5495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.480G>A MANE Select | ENSP00000368253.4:p.Pro160= | |
| ENST00000378970.4:c.480G>A | ENSP00000368253.4:p.Pro160= | |
| NM_000475.4:c.480G>A | NP_000466.2:p.Pro160= | |
| NM_000475.5:c.480G>A MANE Select | NP_000466.2:p.Pro160= |