Linked Data
ClinVar Variation Id:
139390
dbSNP Id:
rs191527230
ExAC:
X:153648447 C / T
gnomAD v2:
X-153648447-C-T
gnomAD v3:
X-154420108-C-T
gnomAD v4:
X-154420108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420108C>T , CM000685.2:g.154420108C>T | GRCh38 |
| NC_000023.10:g.153648447C>T , CM000685.1:g.153648447C>T | GRCh37 |
| NC_000023.9:g.153301641C>T | NCBI36 |
| NG_009634.1:g.13571C>T | |
| NG_009634.2:g.13574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1456+14C>T | ||
| ENST00000698317.1:n.2072+14C>T | ||
| ENST00000698318.1:n.1855+14C>T | ||
| ENST00000698319.1:n.1218+14C>T | ||
| ENST00000698320.1:n.1106+14C>T | ||
| ENST00000470127.2:n.1119+14C>T | ||
| ENST00000475699.6:c.610+14C>T | ENSP00000419854.3:n.610+14C>T | |
| ENST00000483674.3:n.528+14C>T | ||
| ENST00000601016.6:c.646+14C>T MANE Select | ENSP00000469981.1:n.646+14C>T | |
| ENST00000612012.5:c.604+14C>T | ENSP00000482070.2:n.604+14C>T | |
| ENST00000612460.5:c.556+14C>T | ENSP00000481037.1:n.556+14C>T | |
| ENST00000614595.2:n.1993+14C>T | ||
| ENST00000615658.5:n.1235+14C>T | ||
| ENST00000616020.5:c.658+14C>T | ENSP00000483636.2:n.658+14C>T | |
| ENST00000617701.5:c.*659+14C>T | ENSP00000481645.1:n.*659+14C>T | |
| ENST00000652354.1:c.328+14C>T | ENSP00000498734.1:n.328+14C>T | |
| ENST00000652358.1:c.439+14C>T | ENSP00000498464.1:n.439+14C>T | |
| ENST00000652390.1:c.565+14C>T | ENSP00000498858.1:n.565+14C>T | |
| ENST00000652476.1:n.1312+14C>T | ||
| ENST00000652644.1:c.259+14C>T | ENSP00000498496.1:n.259+14C>T | |
| ENST00000652682.1:c.703+14C>T | ENSP00000498288.1:n.703+14C>T | |
| ENST00000652685.1:n.999+14C>T | ||
| ENST00000369776.8:c.453C>T | ENSP00000358791.4:p.Asp151= | |
| ENST00000426231.5:c.643+14C>T | ||
| ENST00000470127.1:n.239C>T | ||
| ENST00000475699.5:c.604+14C>T | ENSP00000419854.2:n.604+14C>T | |
| ENST00000494912.5:n.1335+14C>T | ||
| ENST00000498029.1:n.104+14C>T | ||
| ENST00000601016.5:c.646+14C>T | ENSP00000469981.1:n.646+14C>T | |
| ENST00000612460.4:c.556+14C>T | ENSP00000481037.1:n.556+14C>T | |
| ENST00000613002.4:c.514+14C>T | ENSP00000478154.1:n.514+14C>T | |
| ENST00000615986.4:c.*374+14C>T | ENSP00000480133.1:n.*374+14C>T | |
| NM_000116.4:c.646+14C>T | NP_000107.1:n.646+14C>T | |
| NM_001303465.1:c.658+14C>T | NP_001290394.1:n.658+14C>T | |
| NM_181311.3:c.556+14C>T | NP_851828.1:n.556+14C>T | |
| NM_181312.3:c.604+14C>T | NP_851829.1:n.604+14C>T | |
| NM_181313.3:c.514+14C>T | NP_851830.1:n.514+14C>T | |
| NR_024048.2:n.988+14C>T | ||
| XM_006724836.1:c.700+14C>T | XP_006724899.1:n.700+14C>T | |
| XM_006724837.1:c.582C>T | XP_006724900.1:p.Asp194= | |
| XM_006724839.1:c.568+14C>T | XP_006724902.1:n.568+14C>T | |
| XM_006724841.2:c.439+14C>T | XP_006724904.1:n.439+14C>T | |
| XM_006724842.2:c.349+14C>T | XP_006724905.1:n.349+14C>T | |
| XM_011531189.1:c.487+14C>T | XP_011529491.1:n.487+14C>T | |
| XM_011531190.1:c.439+14C>T | XP_011529492.1:n.439+14C>T | |
| XM_011531191.1:c.370+14C>T | XP_011529493.1:n.370+14C>T | |
| XM_011531192.1:c.367+14C>T | XP_011529494.1:n.367+14C>T | |
| XR_938511.1:n.994+14C>T | ||
| XM_006724841.4:c.439+14C>T | XP_006724904.1:n.439+14C>T | |
| XM_006724842.4:c.349+14C>T | XP_006724905.1:n.349+14C>T | |
| XM_011531191.2:c.370+14C>T | XP_011529493.1:n.370+14C>T | |
| XM_017029761.1:c.528C>T | XP_016885250.1:p.Asp176= | |
| XM_017029762.1:c.610+14C>T | XP_016885251.1:n.610+14C>T | |
| XM_017029763.1:c.433+14C>T | XP_016885252.1:n.433+14C>T | |
| XM_017029764.1:c.367+14C>T | XP_016885253.1:n.367+14C>T | |
| XM_017029765.2:c.307+14C>T | XP_016885254.1:n.307+14C>T | |
| XM_024452431.1:c.501C>T | XP_024308199.1:p.Asp167= | |
| NM_000116.5:c.646+14C>T MANE Select | NP_000107.1:n.646+14C>T | |
| NM_001303465.2:c.658+14C>T | NP_001290394.1:n.658+14C>T | |
| NM_181311.4:c.556+14C>T | NP_851828.1:n.556+14C>T | |
| NM_181312.4:c.604+14C>T | NP_851829.1:n.604+14C>T | |
| NM_181313.4:c.514+14C>T | NP_851830.1:n.514+14C>T | |
| NR_024048.3:n.967+14C>T |