Linked Data
ClinVar Variation Id:
1671534
ClinVar RCV Id:
RCV002199017
dbSNP Id:
rs2068375753
gnomAD v4:
X-38381395-T-C
MyVariant Identifiers:
chrX:g.38240648T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381395T>C , CM000685.2:g.38381395T>C | GRCh38 |
| NC_000023.10:g.38240648T>C , CM000685.1:g.38240648T>C | GRCh37 |
| NC_000023.9:g.38125592T>C | NCBI36 |
| NG_008471.1:g.33913T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.352T>C MANE Select | ENSP00000039007.4:p.Leu118= | |
| ENST00000643344.1:c.*102T>C | ENSP00000496606.1:n.*102T>C | |
| ENST00000039007.4:c.352T>C | ENSP00000039007.4:p.Leu118= | |
| ENST00000465127.1:c.172-284726T>C | ENSP00000417050.1:n.172-284726T>C | |
| ENST00000488812.1:n.389T>C | ||
| NM_000531.5:c.352T>C | NP_000522.3:p.Leu118= | |
| XM_017029556.1:c.352T>C | XP_016885045.1:p.Leu118= | |
| NM_000531.6:c.352T>C MANE Select | NP_000522.3:p.Leu118= |