Linked Data
dbSNP Id:
rs781788918
ExAC:
X:153648571 A / C
gnomAD v2:
X-153648571-A-C
gnomAD v4:
X-154420232-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420232A>C , CM000685.2:g.154420232A>C | GRCh38 |
| NC_000023.10:g.153648571A>C , CM000685.1:g.153648571A>C | GRCh37 |
| NC_000023.9:g.153301765A>C | NCBI36 |
| NG_009634.1:g.13695A>C | |
| NG_009634.2:g.13698A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1477A>C | ||
| ENST00000698317.1:n.2093A>C | ||
| ENST00000698318.1:n.1876A>C | ||
| ENST00000698319.1:n.1239A>C | ||
| ENST00000698320.1:n.1127A>C | ||
| ENST00000470127.2:n.1140A>C | ||
| ENST00000475699.6:c.631A>C | ENSP00000419854.3:p.Asn211His | |
| ENST00000483674.3:n.549A>C | ||
| ENST00000601016.6:c.667A>C MANE Select | ENSP00000469981.1:p.Asn223His | |
| ENST00000612012.5:c.625A>C | ENSP00000482070.2:p.Asn209His | |
| ENST00000612460.5:c.577A>C | ENSP00000481037.1:p.Asn193His | |
| ENST00000614595.2:n.2014A>C | ||
| ENST00000615658.5:n.1256A>C | ||
| ENST00000616020.5:c.679A>C | ENSP00000483636.2:p.Asn227His | |
| ENST00000617701.5:c.*680A>C | ENSP00000481645.1:n.*680A>C | |
| ENST00000652354.1:c.349A>C | ENSP00000498734.1:p.Asn117His | |
| ENST00000652358.1:c.460A>C | ENSP00000498464.1:p.Asn154His | |
| ENST00000652390.1:c.586A>C | ENSP00000498858.1:p.Asn196His | |
| ENST00000652476.1:n.1333A>C | ||
| ENST00000652644.1:c.280A>C | ENSP00000498496.1:p.Asn94His | |
| ENST00000652682.1:c.724A>C | ENSP00000498288.1:p.Asn242His | |
| ENST00000652685.1:n.1020A>C | ||
| ENST00000369776.8:c.577A>C | ENSP00000358791.4:p.Asn193His | |
| ENST00000426231.5:c.664A>C | ||
| ENST00000475699.5:c.625A>C | ENSP00000419854.2:p.Asn209His | |
| ENST00000494912.5:n.1356A>C | ||
| ENST00000498029.1:n.125A>C | ||
| ENST00000601016.5:c.667A>C | ENSP00000469981.1:p.Asn223His | |
| ENST00000612460.4:c.577A>C | ENSP00000481037.1:p.Asn193His | |
| ENST00000613002.4:c.535A>C | ENSP00000478154.1:p.Asn179His | |
| ENST00000615986.4:c.*395A>C | ENSP00000480133.1:n.*395A>C | |
| NM_000116.4:c.667A>C | NP_000107.1:p.Asn223His | |
| NM_001303465.1:c.679A>C | NP_001290394.1:p.Asn227His | |
| NM_181311.3:c.577A>C | NP_851828.1:p.Asn193His | |
| NM_181312.3:c.625A>C | NP_851829.1:p.Asn209His | |
| NM_181313.3:c.535A>C | NP_851830.1:p.Asn179His | |
| NR_024048.2:n.1009A>C | ||
| XM_006724836.1:c.721A>C | XP_006724899.1:p.Asn241His | |
| XM_006724837.1:c.706A>C | XP_006724900.1:p.Asn236His | |
| XM_006724839.1:c.589A>C | XP_006724902.1:p.Asn197His | |
| XM_006724841.2:c.460A>C | XP_006724904.1:p.Asn154His | |
| XM_006724842.2:c.370A>C | XP_006724905.1:p.Asn124His | |
| XM_011531189.1:c.508A>C | XP_011529491.1:p.Asn170His | |
| XM_011531190.1:c.460A>C | XP_011529492.1:p.Asn154His | |
| XM_011531191.1:c.391A>C | XP_011529493.1:p.Asn131His | |
| XM_011531192.1:c.388A>C | XP_011529494.1:p.Asn130His | |
| XR_938511.1:n.1015A>C | ||
| XM_006724841.4:c.460A>C | XP_006724904.1:p.Asn154His | |
| XM_006724842.4:c.370A>C | XP_006724905.1:p.Asn124His | |
| XM_011531191.2:c.391A>C | XP_011529493.1:p.Asn131His | |
| XM_017029761.1:c.652A>C | XP_016885250.1:p.Asn218His | |
| XM_017029762.1:c.631A>C | XP_016885251.1:p.Asn211His | |
| XM_017029763.1:c.454A>C | XP_016885252.1:p.Asn152His | |
| XM_017029764.1:c.388A>C | XP_016885253.1:p.Asn130His | |
| XM_017029765.2:c.328A>C | XP_016885254.1:p.Asn110His | |
| XM_024452431.1:c.625A>C | XP_024308199.1:p.Asn209His | |
| NM_000116.5:c.667A>C MANE Select | NP_000107.1:p.Asn223His | |
| NM_001303465.2:c.679A>C | NP_001290394.1:p.Asn227His | |
| NM_181311.4:c.577A>C | NP_851828.1:p.Asn193His | |
| NM_181312.4:c.625A>C | NP_851829.1:p.Asn209His | |
| NM_181313.4:c.535A>C | NP_851830.1:p.Asn179His | |
| NR_024048.3:n.988A>C |