Linked Data
ClinVar Variation Id:
2038715
ClinVar RCV Id:
RCV002895162
gnomAD v4:
X-38367357-T-C
MyVariant Identifiers:
chrX:g.38226610T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367357T>C , CM000685.2:g.38367357T>C | GRCh38 |
| NC_000023.10:g.38226610T>C , CM000685.1:g.38226610T>C | GRCh37 |
| NC_000023.9:g.38111554T>C | NCBI36 |
| NG_008471.1:g.19875T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.144T>C MANE Select | ENSP00000039007.4:p.Phe48= | |
| ENST00000643344.1:c.144T>C | ENSP00000496606.1:p.Phe48= | |
| ENST00000039007.4:c.144T>C | ENSP00000039007.4:p.Phe48= | |
| ENST00000465127.1:c.172-298764T>C | ENSP00000417050.1:n.172-298764T>C | |
| ENST00000488812.1:n.236T>C | ||
| NM_000531.5:c.144T>C | NP_000522.3:p.Phe48= | |
| XM_017029556.1:c.144T>C | XP_016885045.1:p.Phe48= | |
| NM_000531.6:c.144T>C MANE Select | NP_000522.3:p.Phe48= |