Linked Data
dbSNP Id:
rs1557150914
gnomAD v2:
X-153363128-G-A
gnomAD v4:
X-154097671-G-A
MyVariant Identifiers:
chrX:g.153363128G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097671G>A , CM000685.2:g.154097671G>A | GRCh38 |
| NC_000023.10:g.153363128G>A , CM000685.1:g.153363128G>A | GRCh37 |
| NC_000023.9:g.153016322G>A | NCBI36 |
| NG_007107.2:g.44451C>T | |
| NG_007107.3:g.44433C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-166C>T MANE Plus Clinical | ENSP00000301948.6:n.-166C>T | |
| ENST00000453960.7:c.-6C>T MANE Select | ENSP00000395535.2:n.-6C>T | |
| ENST00000303391.10:c.-166C>T | ENSP00000301948.6:n.-166C>T | |
| ENST00000407218.5:c.-6C>T | ENSP00000384865.2:n.-6C>T | |
| ENST00000453960.6:c.-6C>T | ENSP00000395535.2:n.-6C>T | |
| ENST00000619732.4:c.-166C>T | ENSP00000480973.1:n.-166C>T | |
| ENST00000627864.1:n.10C>T | ||
| ENST00000628176.2:c.-166C>T | ENSP00000486978.1:n.-166C>T | |
| ENST00000631210.1:n.305+7110C>T | ||
| NM_001110792.1:c.-6C>T | NP_001104262.1:n.-6C>T | |
| NM_001316337.1:c.-613C>T | NP_001303266.1:n.-613C>T | |
| NM_004992.3:c.-166C>T | NP_004983.1:n.-166C>T | |
| XM_005274682.3:c.-557C>T | XP_005274739.1:n.-557C>T | |
| NM_001110792.2:c.-6C>T MANE Select | NP_001104262.1:n.-6C>T | |
| NM_001316337.2:c.-613C>T | NP_001303266.1:n.-613C>T | |
| NM_001369391.2:c.-908C>T | NP_001356320.1:n.-908C>T | |
| NM_001369392.2:c.-557C>T | NP_001356321.1:n.-557C>T | |
| NM_001369393.2:c.-433C>T | NP_001356322.1:n.-433C>T | |
| NM_001386137.1:c.-838C>T | NP_001373066.1:n.-838C>T | |
| NM_001386138.1:c.-726C>T | NP_001373067.1:n.-726C>T | |
| NM_001386139.1:c.-602C>T | NP_001373068.1:n.-602C>T | |
| NM_004992.4:c.-166C>T MANE Plus Clinical | NP_004983.1:n.-166C>T |