Linked Data
ClinVar Variation Id:
1101931
ClinVar RCV Id:
RCV001425036
dbSNP Id:
rs2148128347
COSMIC:
COSM6054020
MyVariant Identifiers:
chrX:g.153608360T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380000T>A , CM000685.2:g.154380000T>A | GRCh38 |
| NC_000023.10:g.153608360T>A , CM000685.1:g.153608360T>A | GRCh37 |
| NC_000023.9:g.153261554T>A | NCBI36 |
| NG_008677.1:g.10565T>A , LRG_745:g.10565T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.246T>A | ENSP00000507245.1:p.Ala82= | |
| ENST00000682478.1:n.222T>A | ||
| ENST00000683576.1:n.222T>A | ||
| ENST00000683627.1:c.246T>A | ENSP00000507533.1:p.Ala82= | |
| ENST00000684082.1:c.246T>A | ENSP00000508266.1:p.Ala82= | |
| ENST00000684633.1:n.218T>A | ||
| ENST00000684678.1:c.242T>A | ENSP00000507059.1:n.242T>A | |
| ENST00000369842.9:c.246T>A MANE Select | ENSP00000358857.4:p.Ala82= | |
| ENST00000369835.3:c.141T>A | ENSP00000358850.3:p.Ala47= | |
| ENST00000369842.8:c.246T>A | ENSP00000358857.4:p.Ala82= | |
| ENST00000428228.5:c.*151T>A | ENSP00000401081.1:n.*151T>A | |
| ENST00000468294.5:n.206T>A | ||
| ENST00000485261.1:n.222T>A | ||
| ENST00000486738.5:n.390T>A | ||
| ENST00000492448.1:n.229T>A | ||
| ENST00000494443.5:n.303T>A | ||
| NM_000117.2:c.246T>A , LRG_745t1:c.246T>A | NP_000108.1:p.Ala82= | |
| XM_024452349.1:c.38T>A | XP_024308117.1:p.Leu13His | |
| NM_000117.3:c.246T>A MANE Select | NP_000108.1:p.Ala82= |