Linked Data
ClinVar Variation Id:
2941462
ClinVar RCV Id:
RCV003795164
dbSNP Id:
rs2048712844
MyVariant Identifiers:
chrX:g.25031725T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013608T>G , CM000685.2:g.25013608T>G | GRCh38 |
| NC_000023.10:g.25031725T>G , CM000685.1:g.25031725T>G | GRCh37 |
| NC_000023.9:g.24941646T>G | NCBI36 |
| NG_008281.1:g.7341A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.387A>C MANE Select | ENSP00000368332.4:p.Pro129= | |
| ENST00000379044.4:c.387A>C | ENSP00000368332.4:p.Pro129= | |
| NM_139058.2:c.387A>C | NP_620689.1:p.Pro129= | |
| NM_139058.3:c.387A>C MANE Select | NP_620689.1:p.Pro129= |