Linked Data
ClinVar Variation Id:
1572838
ClinVar RCV Id:
RCV002220059
dbSNP Id:
rs2147342757
gnomAD v4:
X-38403710-C-T
COSMIC:
COSM488361
MyVariant Identifiers:
chrX:g.38262963C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403710C>T , CM000685.2:g.38403710C>T | GRCh38 |
| NC_000023.10:g.38262963C>T , CM000685.1:g.38262963C>T | GRCh37 |
| NC_000023.9:g.38147907C>T | NCBI36 |
| NG_008471.1:g.56228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.633C>T MANE Select | ENSP00000039007.4:p.Phe211= | |
| ENST00000643344.1:c.*383C>T | ENSP00000496606.1:n.*383C>T | |
| ENST00000039007.4:c.633C>T | ENSP00000039007.4:p.Phe211= | |
| ENST00000465127.1:c.172-262411C>T | ENSP00000417050.1:n.172-262411C>T | |
| NM_000531.5:c.633C>T | NP_000522.3:p.Phe211= | |
| XM_017029556.1:c.633C>T | XP_016885045.1:p.Phe211= | |
| NM_000531.6:c.633C>T MANE Select | NP_000522.3:p.Phe211= |