Linked Data
ClinVar Variation Id:
2725294
ClinVar RCV Id:
RCV003513382
MyVariant Identifiers:
chrX:g.153649032C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420693C>T , CM000685.2:g.154420693C>T | GRCh38 |
| NC_000023.10:g.153649032C>T , CM000685.1:g.153649032C>T | GRCh37 |
| NC_000023.9:g.153302226C>T | NCBI36 |
| NG_009634.1:g.14156C>T | |
| NG_009634.2:g.14159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1545C>T | ||
| ENST00000698317.1:n.2161C>T | ||
| ENST00000698318.1:n.1944C>T | ||
| ENST00000698319.1:n.1307C>T | ||
| ENST00000698320.1:n.1195C>T | ||
| ENST00000470127.2:n.1208C>T | ||
| ENST00000475699.6:c.699C>T | ENSP00000419854.3:p.Ala233= | |
| ENST00000483674.3:n.617C>T | ||
| ENST00000601016.6:c.735C>T MANE Select | ENSP00000469981.1:p.Ala245= | |
| ENST00000612012.5:c.693C>T | ENSP00000482070.2:p.Ala231= | |
| ENST00000612460.5:c.645C>T | ENSP00000481037.1:p.Ala215= | |
| ENST00000614595.2:n.2082C>T | ||
| ENST00000615658.5:n.1324C>T | ||
| ENST00000616020.5:c.747C>T | ENSP00000483636.2:p.Ala249= | |
| ENST00000617701.5:c.*748C>T | ENSP00000481645.1:n.*748C>T | |
| ENST00000651139.1:c.-49C>T | ENSP00000498957.1:n.-49C>T | |
| ENST00000652354.1:c.417C>T | ENSP00000498734.1:p.Ala139= | |
| ENST00000652358.1:c.528C>T | ENSP00000498464.1:p.Ala176= | |
| ENST00000652390.1:c.654C>T | ENSP00000498858.1:p.Ala218= | |
| ENST00000652476.1:n.1401C>T | ||
| ENST00000652644.1:c.348C>T | ENSP00000498496.1:p.Ala116= | |
| ENST00000652682.1:c.792C>T | ENSP00000498288.1:p.Ala264= | |
| ENST00000652685.1:n.1088C>T | ||
| ENST00000369776.8:c.645C>T | ENSP00000358791.4:p.Ala215= | |
| ENST00000426231.5:c.732C>T | ||
| ENST00000475699.5:c.693C>T | ENSP00000419854.2:p.Ala231= | |
| ENST00000494912.5:n.1424C>T | ||
| ENST00000498029.1:n.193C>T | ||
| ENST00000601016.5:c.735C>T | ENSP00000469981.1:p.Ala245= | |
| ENST00000612460.4:c.645C>T | ENSP00000481037.1:p.Ala215= | |
| ENST00000613002.4:c.603C>T | ENSP00000478154.1:p.Ala201= | |
| ENST00000615986.4:c.*463C>T | ENSP00000480133.1:n.*463C>T | |
| NM_000116.4:c.735C>T | NP_000107.1:p.Ala245= | |
| NM_001303465.1:c.747C>T | NP_001290394.1:p.Ala249= | |
| NM_181311.3:c.645C>T | NP_851828.1:p.Ala215= | |
| NM_181312.3:c.693C>T | NP_851829.1:p.Ala231= | |
| NM_181313.3:c.603C>T | NP_851830.1:p.Ala201= | |
| NR_024048.2:n.1077C>T | ||
| XM_006724836.1:c.789C>T | XP_006724899.1:p.Ala263= | |
| XM_006724837.1:c.774C>T | XP_006724900.1:p.Ala258= | |
| XM_006724839.1:c.657C>T | XP_006724902.1:p.Ala219= | |
| XM_006724841.2:c.528C>T | XP_006724904.1:p.Ala176= | |
| XM_006724842.2:c.438C>T | XP_006724905.1:p.Ala146= | |
| XM_011531189.1:c.576C>T | XP_011529491.1:p.Ala192= | |
| XM_011531190.1:c.528C>T | XP_011529492.1:p.Ala176= | |
| XM_011531191.1:c.459C>T | XP_011529493.1:p.Ala153= | |
| XM_011531192.1:c.456C>T | XP_011529494.1:p.Ala152= | |
| XR_938511.1:n.1083C>T | ||
| XM_006724841.4:c.528C>T | XP_006724904.1:p.Ala176= | |
| XM_006724842.4:c.438C>T | XP_006724905.1:p.Ala146= | |
| XM_011531191.2:c.459C>T | XP_011529493.1:p.Ala153= | |
| XM_017029761.1:c.720C>T | XP_016885250.1:p.Ala240= | |
| XM_017029762.1:c.699C>T | XP_016885251.1:p.Ala233= | |
| XM_017029763.1:c.522C>T | XP_016885252.1:p.Ala174= | |
| XM_017029764.1:c.456C>T | XP_016885253.1:p.Ala152= | |
| XM_017029765.2:c.396C>T | XP_016885254.1:p.Ala132= | |
| XM_024452431.1:c.693C>T | XP_024308199.1:p.Ala231= | |
| NM_000116.5:c.735C>T MANE Select | NP_000107.1:p.Ala245= | |
| NM_001303465.2:c.747C>T | NP_001290394.1:p.Ala249= | |
| NM_181311.4:c.645C>T | NP_851828.1:p.Ala215= | |
| NM_181312.4:c.693C>T | NP_851829.1:p.Ala231= | |
| NM_181313.4:c.603C>T | NP_851830.1:p.Ala201= | |
| NR_024048.3:n.1056C>T |