Linked Data
ClinVar Variation Id:
222829
dbSNP Id:
rs782731479
ExAC:
X:153648992 C / T
gnomAD v2:
X-153648992-C-T
gnomAD v4:
X-154420653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420653C>T , CM000685.2:g.154420653C>T | GRCh38 |
| NC_000023.10:g.153648992C>T , CM000685.1:g.153648992C>T | GRCh37 |
| NC_000023.9:g.153302186C>T | NCBI36 |
| NG_009634.1:g.14116C>T | |
| NG_009634.2:g.14119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1510-5C>T | ||
| ENST00000698317.1:n.2126-5C>T | ||
| ENST00000698318.1:n.1909-5C>T | ||
| ENST00000698319.1:n.1272-5C>T | ||
| ENST00000698320.1:n.1160-5C>T | ||
| ENST00000470127.2:n.1173-5C>T | ||
| ENST00000475699.6:c.664-5C>T | ENSP00000419854.3:n.664-5C>T | |
| ENST00000483674.3:n.582-5C>T | ||
| ENST00000601016.6:c.700-5C>T MANE Select | ENSP00000469981.1:n.700-5C>T | |
| ENST00000612012.5:c.658-5C>T | ENSP00000482070.2:n.658-5C>T | |
| ENST00000612460.5:c.610-5C>T | ENSP00000481037.1:n.610-5C>T | |
| ENST00000614595.2:n.2047-5C>T | ||
| ENST00000615658.5:n.1289-5C>T | ||
| ENST00000616020.5:c.712-5C>T | ENSP00000483636.2:n.712-5C>T | |
| ENST00000617701.5:c.*713-5C>T | ENSP00000481645.1:n.*713-5C>T | |
| ENST00000651139.1:c.-84-5C>T | ENSP00000498957.1:n.-84-5C>T | |
| ENST00000652354.1:c.382-5C>T | ENSP00000498734.1:n.382-5C>T | |
| ENST00000652358.1:c.493-5C>T | ENSP00000498464.1:n.493-5C>T | |
| ENST00000652390.1:c.619-5C>T | ENSP00000498858.1:n.619-5C>T | |
| ENST00000652476.1:n.1366-5C>T | ||
| ENST00000652644.1:c.313-5C>T | ENSP00000498496.1:n.313-5C>T | |
| ENST00000652682.1:c.757-5C>T | ENSP00000498288.1:n.757-5C>T | |
| ENST00000652685.1:n.1053-5C>T | ||
| ENST00000369776.8:c.610-5C>T | ENSP00000358791.4:n.610-5C>T | |
| ENST00000426231.5:c.697-5C>T | ||
| ENST00000475699.5:c.658-5C>T | ENSP00000419854.2:n.658-5C>T | |
| ENST00000494912.5:n.1389-5C>T | ||
| ENST00000498029.1:n.158-5C>T | ||
| ENST00000601016.5:c.700-5C>T | ENSP00000469981.1:n.700-5C>T | |
| ENST00000612460.4:c.610-5C>T | ENSP00000481037.1:n.610-5C>T | |
| ENST00000613002.4:c.568-5C>T | ENSP00000478154.1:n.568-5C>T | |
| ENST00000615986.4:c.*428-5C>T | ENSP00000480133.1:n.*428-5C>T | |
| NM_000116.4:c.700-5C>T | NP_000107.1:n.700-5C>T | |
| NM_001303465.1:c.712-5C>T | NP_001290394.1:n.712-5C>T | |
| NM_181311.3:c.610-5C>T | NP_851828.1:n.610-5C>T | |
| NM_181312.3:c.658-5C>T | NP_851829.1:n.658-5C>T | |
| NM_181313.3:c.568-5C>T | NP_851830.1:n.568-5C>T | |
| NR_024048.2:n.1042-5C>T | ||
| XM_006724836.1:c.754-5C>T | XP_006724899.1:n.754-5C>T | |
| XM_006724837.1:c.739-5C>T | XP_006724900.1:n.739-5C>T | |
| XM_006724839.1:c.622-5C>T | XP_006724902.1:n.622-5C>T | |
| XM_006724841.2:c.493-5C>T | XP_006724904.1:n.493-5C>T | |
| XM_006724842.2:c.403-5C>T | XP_006724905.1:n.403-5C>T | |
| XM_011531189.1:c.541-5C>T | XP_011529491.1:n.541-5C>T | |
| XM_011531190.1:c.493-5C>T | XP_011529492.1:n.493-5C>T | |
| XM_011531191.1:c.424-5C>T | XP_011529493.1:n.424-5C>T | |
| XM_011531192.1:c.421-5C>T | XP_011529494.1:n.421-5C>T | |
| XR_938511.1:n.1048-5C>T | ||
| XM_006724841.4:c.493-5C>T | XP_006724904.1:n.493-5C>T | |
| XM_006724842.4:c.403-5C>T | XP_006724905.1:n.403-5C>T | |
| XM_011531191.2:c.424-5C>T | XP_011529493.1:n.424-5C>T | |
| XM_017029761.1:c.685-5C>T | XP_016885250.1:n.685-5C>T | |
| XM_017029762.1:c.664-5C>T | XP_016885251.1:n.664-5C>T | |
| XM_017029763.1:c.487-5C>T | XP_016885252.1:n.487-5C>T | |
| XM_017029764.1:c.421-5C>T | XP_016885253.1:n.421-5C>T | |
| XM_017029765.2:c.361-5C>T | XP_016885254.1:n.361-5C>T | |
| XM_024452431.1:c.658-5C>T | XP_024308199.1:n.658-5C>T | |
| NM_000116.5:c.700-5C>T MANE Select | NP_000107.1:n.700-5C>T | |
| NM_001303465.2:c.712-5C>T | NP_001290394.1:n.712-5C>T | |
| NM_181311.4:c.610-5C>T | NP_851828.1:n.610-5C>T | |
| NM_181312.4:c.658-5C>T | NP_851829.1:n.658-5C>T | |
| NM_181313.4:c.568-5C>T | NP_851830.1:n.568-5C>T | |
| NR_024048.3:n.1021-5C>T |