Linked Data
dbSNP Id:
rs2239464
gnomAD v3:
X-154082978-G-A
gnomAD v4:
X-154082978-G-A
MyVariant Identifiers:
chrX:g.154082978G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154082978G>A , CM000685.2:g.154082978G>A | GRCh38 |
| NG_007107.3:g.59126C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700484.1:n.22+14626C>T | ||
| ENST00000303391.11:c.26+9206C>T MANE Plus Clinical | ENSP00000301948.6:n.26+9206C>T | |
| ENST00000453960.7:c.62+14626C>T MANE Select | ENSP00000395535.2:n.62+14626C>T | |
| ENST00000611468.2:n.124+9206C>T | ||
| ENST00000630151.2:c.26+9206C>T | ENSP00000486089.1:n.26+9206C>T | |
| ENST00000637533.1:n.57+13991C>T | ||
| ENST00000637791.1:n.78+9206C>T | ||
| ENST00000674996.1:c.26+9206C>T | ENSP00000502832.1:n.26+9206C>T | |
| ENST00000675526.1:c.26+9206C>T | ENSP00000501710.1:n.26+9206C>T | |
| ENST00000675841.1:n.124+9206C>T | ||
| ENST00000676382.1:n.22+14626C>T | ||
| ENST00000303391.10:c.26+9206C>T | ENSP00000301948.6:n.26+9206C>T | |
| ENST00000369957.5:c.26+9206C>T | ENSP00000358973.4:n.26+9206C>T | |
| ENST00000407218.5:c.62+14626C>T | ENSP00000384865.2:n.62+14626C>T | |
| ENST00000415944.3:c.26+9206C>T | ENSP00000416267.1:n.26+9206C>T | |
| ENST00000453960.6:c.62+14626C>T | ENSP00000395535.2:n.62+14626C>T | |
| ENST00000496908.5:n.157+13835C>T | ||
| ENST00000611468.1:c.14+9206C>T | ENSP00000479736.1:n.14+9206C>T | |
| ENST00000619732.4:c.26+9206C>T | ENSP00000480973.1:n.26+9206C>T | |
| ENST00000622433.4:c.14+9206C>T | ENSP00000484470.1:n.14+9206C>T | |
| ENST00000628176.2:c.26+9206C>T | ENSP00000486978.1:n.26+9206C>T | |
| ENST00000630151.1:c.26+9206C>T | ENSP00000486089.1:n.26+9206C>T | |
| ENST00000631210.1:n.305+21803C>T | ||
| NM_001110792.1:c.62+14626C>T | NP_001104262.1:n.62+14626C>T | |
| NM_001316337.1:c.-422+9206C>T | NP_001303266.1:n.-422+9206C>T | |
| NM_004992.3:c.26+9206C>T | NP_004983.1:n.26+9206C>T | |
| XM_005274681.3:c.26+9206C>T | XP_005274738.1:n.26+9206C>T | |
| XM_005274682.3:c.-366+9206C>T | XP_005274739.1:n.-366+9206C>T | |
| XM_024452383.1:c.-792+9206C>T | XP_024308151.1:n.-792+9206C>T | |
| XM_024452384.1:c.-366+9206C>T | XP_024308152.1:n.-366+9206C>T | |
| NM_001110792.2:c.62+14626C>T MANE Select | NP_001104262.1:n.62+14626C>T | |
| NM_001316337.2:c.-422+9206C>T | NP_001303266.1:n.-422+9206C>T | |
| NM_001369391.2:c.-717+9206C>T | NP_001356320.1:n.-717+9206C>T | |
| NM_001369392.2:c.-366+9206C>T | NP_001356321.1:n.-366+9206C>T | |
| NM_001369393.2:c.-366+14626C>T | NP_001356322.1:n.-366+14626C>T | |
| NM_001369394.1:c.-254+13835C>T | NP_001356323.1:n.-254+13835C>T | |
| NM_001369394.2:c.-254+13835C>T | NP_001356323.1:n.-254+13835C>T | |
| NM_001386137.1:c.-647+9206C>T | NP_001373066.1:n.-647+9206C>T | |
| NM_001386138.1:c.-535+9206C>T | NP_001373067.1:n.-535+9206C>T | |
| NM_001386139.1:c.-535+14626C>T | NP_001373068.1:n.-535+14626C>T | |
| NM_004992.4:c.26+9206C>T MANE Plus Clinical | NP_004983.1:n.26+9206C>T |