Linked Data
ClinVar Variation Id:
2021913
ClinVar RCV Id:
RCV002847378
MyVariant Identifiers:
chrX:g.25025248G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007131G>A , CM000685.2:g.25007131G>A | GRCh38 |
| NC_000023.10:g.25025248G>A , CM000685.1:g.25025248G>A | GRCh37 |
| NC_000023.9:g.24935169G>A | NCBI36 |
| NG_008281.1:g.13818C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1428C>T MANE Select | ENSP00000368332.4:p.Phe476= | |
| ENST00000637993.1:c.41C>T | ||
| ENST00000379044.4:c.1428C>T | ENSP00000368332.4:p.Phe476= | |
| NM_139058.2:c.1428C>T | NP_620689.1:p.Phe476= | |
| NM_139058.3:c.1428C>T MANE Select | NP_620689.1:p.Phe476= |