Linked Data
ClinVar Variation Id:
42263
dbSNP Id:
rs397515745
ExAC:
X:153648364 T / C
gnomAD v2:
X-153648364-T-C
gnomAD v4:
X-154420025-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420025T>C , CM000685.2:g.154420025T>C | GRCh38 |
| NC_000023.10:g.153648364T>C , CM000685.1:g.153648364T>C | GRCh37 |
| NC_000023.9:g.153301558T>C | NCBI36 |
| NG_009634.1:g.13488T>C | |
| NG_009634.2:g.13491T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1387T>C | ||
| ENST00000698317.1:n.2003T>C | ||
| ENST00000698318.1:n.1786T>C | ||
| ENST00000698319.1:n.1149T>C | ||
| ENST00000698320.1:n.1037T>C | ||
| ENST00000470127.2:n.1050T>C | ||
| ENST00000475699.6:c.548-7T>C | ENSP00000419854.3:n.548-7T>C | |
| ENST00000483674.3:n.466-7T>C | ||
| ENST00000601016.6:c.584-7T>C MANE Select | ENSP00000469981.1:n.584-7T>C | |
| ENST00000612012.5:c.542-7T>C | ENSP00000482070.2:n.542-7T>C | |
| ENST00000612460.5:c.494-7T>C | ENSP00000481037.1:n.494-7T>C | |
| ENST00000614595.2:n.1931-7T>C | ||
| ENST00000615658.5:n.1166T>C | ||
| ENST00000616020.5:c.596-7T>C | ENSP00000483636.2:n.596-7T>C | |
| ENST00000617701.5:c.*590T>C | ENSP00000481645.1:n.*590T>C | |
| ENST00000652354.1:c.266-7T>C | ENSP00000498734.1:n.266-7T>C | |
| ENST00000652358.1:c.377-7T>C | ENSP00000498464.1:n.377-7T>C | |
| ENST00000652390.1:c.503-7T>C | ENSP00000498858.1:n.503-7T>C | |
| ENST00000652476.1:n.1243T>C | ||
| ENST00000652644.1:c.197-7T>C | ENSP00000498496.1:n.197-7T>C | |
| ENST00000652682.1:c.641-7T>C | ENSP00000498288.1:n.641-7T>C | |
| ENST00000652685.1:n.930T>C | ||
| ENST00000369776.8:c.377-7T>C | ENSP00000358791.4:n.377-7T>C | |
| ENST00000426231.5:c.581-7T>C | ||
| ENST00000439735.2:c.491-7T>C | ENSP00000398193.1:n.491-7T>C | |
| ENST00000470127.1:n.163-7T>C | ||
| ENST00000475699.5:c.542-7T>C | ENSP00000419854.2:n.542-7T>C | |
| ENST00000494912.5:n.1273-7T>C | ||
| ENST00000498029.1:n.35T>C | ||
| ENST00000601016.5:c.584-7T>C | ENSP00000469981.1:n.584-7T>C | |
| ENST00000612012.4:c.548-7T>C | ENSP00000482070.1:n.548-7T>C | |
| ENST00000612460.4:c.494-7T>C | ENSP00000481037.1:n.494-7T>C | |
| ENST00000613002.4:c.452-7T>C | ENSP00000478154.1:n.452-7T>C | |
| ENST00000613634.4:n.1092T>C | ||
| ENST00000615658.4:n.1266T>C | ||
| ENST00000615986.4:c.*312-7T>C | ENSP00000480133.1:n.*312-7T>C | |
| ENST00000620808.4:c.*170-7T>C | ENSP00000479311.1:n.*170-7T>C | |
| NM_000116.4:c.584-7T>C | NP_000107.1:n.584-7T>C | |
| NM_001303465.1:c.596-7T>C | NP_001290394.1:n.596-7T>C | |
| NM_181311.3:c.494-7T>C | NP_851828.1:n.494-7T>C | |
| NM_181312.3:c.542-7T>C | NP_851829.1:n.542-7T>C | |
| NM_181313.3:c.452-7T>C | NP_851830.1:n.452-7T>C | |
| NR_024048.2:n.926-7T>C | ||
| XM_006724836.1:c.638-7T>C | XP_006724899.1:n.638-7T>C | |
| XM_006724837.1:c.506-7T>C | XP_006724900.1:n.506-7T>C | |
| XM_006724839.1:c.506-7T>C | XP_006724902.1:n.506-7T>C | |
| XM_006724841.2:c.377-7T>C | XP_006724904.1:n.377-7T>C | |
| XM_006724842.2:c.287-7T>C | XP_006724905.1:n.287-7T>C | |
| XM_011531189.1:c.425-7T>C | XP_011529491.1:n.425-7T>C | |
| XM_011531190.1:c.377-7T>C | XP_011529492.1:n.377-7T>C | |
| XM_011531191.1:c.308-7T>C | XP_011529493.1:n.308-7T>C | |
| XM_011531192.1:c.305-7T>C | XP_011529494.1:n.305-7T>C | |
| XR_938511.1:n.932-7T>C | ||
| XM_006724841.4:c.377-7T>C | XP_006724904.1:n.377-7T>C | |
| XM_006724842.4:c.287-7T>C | XP_006724905.1:n.287-7T>C | |
| XM_011531191.2:c.308-7T>C | XP_011529493.1:n.308-7T>C | |
| XM_017029761.1:c.452-7T>C | XP_016885250.1:n.452-7T>C | |
| XM_017029762.1:c.548-7T>C | XP_016885251.1:n.548-7T>C | |
| XM_017029763.1:c.371-7T>C | XP_016885252.1:n.371-7T>C | |
| XM_017029764.1:c.305-7T>C | XP_016885253.1:n.305-7T>C | |
| XM_017029765.2:c.245-7T>C | XP_016885254.1:n.245-7T>C | |
| XM_024452431.1:c.425-7T>C | XP_024308199.1:n.425-7T>C | |
| NM_000116.5:c.584-7T>C MANE Select | NP_000107.1:n.584-7T>C | |
| NM_001303465.2:c.596-7T>C | NP_001290394.1:n.596-7T>C | |
| NM_181311.4:c.494-7T>C | NP_851828.1:n.494-7T>C | |
| NM_181312.4:c.542-7T>C | NP_851829.1:n.542-7T>C | |
| NM_181313.4:c.452-7T>C | NP_851830.1:n.452-7T>C | |
| NR_024048.3:n.905-7T>C |