Linked Data
ClinVar Variation Id:
2911259
ClinVar RCV Id:
RCV003764371
dbSNP Id:
rs2092303510
MyVariant Identifiers:
chrX:g.70346301C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71126451C>T , CM000685.2:g.71126451C>T | GRCh38 |
| NC_000023.10:g.70346301C>T , CM000685.1:g.70346301C>T | GRCh37 |
| NC_000023.9:g.70263026C>T | NCBI36 |
| NG_012808.1:g.12896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.2532C>T | ENSP00000333125.8:p.Leu844= | |
| ENST00000374102.6:c.2652C>T | ENSP00000363215.2:p.Leu884= | |
| ENST00000462984.2:n.497C>T | ||
| ENST00000686548.1:c.*2548C>T | ENSP00000509582.1:n.*2548C>T | |
| ENST00000687382.1:c.2652C>T | ENSP00000510724.1:p.Leu884= | |
| ENST00000688079.1:n.222C>T | ||
| ENST00000688663.1:c.2652C>T | ENSP00000509348.1:p.Leu884= | |
| ENST00000689008.1:c.*3172C>T | ENSP00000509134.1:n.*3172C>T | |
| ENST00000689768.1:n.1262C>T | ||
| ENST00000690145.1:c.2652C>T | ENSP00000508818.1:p.Leu884= | |
| ENST00000690242.1:c.2652C>T | ENSP00000510090.1:p.Leu884= | |
| ENST00000690828.1:n.2808C>T | ||
| ENST00000691113.1:c.597C>T | ENSP00000509755.1:p.Leu199= | |
| ENST00000691385.1:n.2116C>T | ||
| ENST00000691426.1:n.883C>T | ||
| ENST00000691468.1:c.2601C>T | ENSP00000509011.1:p.Leu867= | |
| ENST00000692304.1:c.2652C>T | ENSP00000508427.1:p.Leu884= | |
| ENST00000693324.1:c.2571C>T | ENSP00000508643.1:p.Leu857= | |
| ENST00000693391.1:c.597C>T | ENSP00000509563.1:p.Leu199= | |
| ENST00000374080.8:c.2652C>T MANE Select | ENSP00000363193.3:p.Leu884= | |
| ENST00000333646.10:c.2193C>T | ENSP00000333125.7:p.Leu731= | |
| ENST00000374080.7:c.2652C>T | ENSP00000363193.3:p.Leu884= | |
| ENST00000374102.5:c.2652C>T | ENSP00000363215.1:p.Leu884= | |
| ENST00000462984.1:n.78C>T | ||
| ENST00000471663.5:n.191C>T | ||
| NM_005120.2:c.2652C>T | NP_005111.2:p.Leu884= | |
| XM_005262317.1:c.2652C>T | XP_005262374.1:p.Leu884= | |
| XM_005262319.1:c.2652C>T | XP_005262376.1:p.Leu884= | |
| NM_005120.3:c.2652C>T MANE Select | NP_005111.2:p.Leu884= |