Linked Data
dbSNP Id:
rs1270331135
gnomAD v3:
X-135985411-C-T
gnomAD v4:
X-135985411-C-T
MyVariant Identifiers:
chrX:g.135985411C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135985411C>T , CM000685.2:g.135985411C>T | GRCh38 |
| NC_000023.10:g.135067570C>T , CM000685.1:g.135067570C>T | GRCh37 |
| NC_000023.9:g.134895236C>T | NCBI36 |
| NG_017160.1:g.4985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370701.6:c.-123C>T | ENSP00000359735.1:n.-123C>T | |
| ENST00000636092.1:c.-56-192C>T | ENSP00000490406.1:n.-56-192C>T | |
| ENST00000636347.1:c.-35-213C>T | ENSP00000490648.1:n.-35-213C>T | |
| ENST00000637195.1:c.-35-213C>T | ENSP00000490330.1:n.-35-213C>T | |
| ENST00000637234.1:c.-56-192C>T | ENSP00000490527.1:n.-56-192C>T | |
| ENST00000637581.1:c.-56-192C>T | ENSP00000490731.1:n.-56-192C>T | |
| XM_006724726.3:c.-118C>T | XP_006724789.1:n.-118C>T | |
| XM_017029223.2:c.-56-192C>T | XP_016884712.1:n.-56-192C>T | |
| XM_017029224.1:c.-56-192C>T | XP_016884713.1:n.-56-192C>T | |
| NM_001400909.1:c.-35-213C>T | NP_001387838.1:n.-35-213C>T | |
| NM_001400910.1:c.-56-192C>T | NP_001387839.1:n.-56-192C>T | |
| NM_001400911.1:c.-56-192C>T | NP_001387840.1:n.-56-192C>T |