Linked Data
ClinVar Variation Id:
451312
dbSNP Id:
rs200909606
ExAC:
X:153649058 C / T
gnomAD v2:
X-153649058-C-T
gnomAD v3:
X-154420719-C-T
gnomAD v4:
X-154420719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420719C>T , CM000685.2:g.154420719C>T | GRCh38 |
| NC_000023.10:g.153649058C>T , CM000685.1:g.153649058C>T | GRCh37 |
| NC_000023.9:g.153302252C>T | NCBI36 |
| NG_009634.1:g.14182C>T | |
| NG_009634.2:g.14185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1571C>T | ||
| ENST00000698317.1:n.2187C>T | ||
| ENST00000698318.1:n.1970C>T | ||
| ENST00000698319.1:n.1333C>T | ||
| ENST00000698320.1:n.1221C>T | ||
| ENST00000470127.2:n.1234C>T | ||
| ENST00000475699.6:c.725C>T | ENSP00000419854.3:p.Ala242Val | |
| ENST00000483674.3:n.643C>T | ||
| ENST00000601016.6:c.761C>T MANE Select | ENSP00000469981.1:p.Ala254Val | |
| ENST00000612012.5:c.719C>T | ENSP00000482070.2:p.Ala240Val | |
| ENST00000612460.5:c.671C>T | ENSP00000481037.1:p.Ala224Val | |
| ENST00000614595.2:n.2108C>T | ||
| ENST00000615658.5:n.1350C>T | ||
| ENST00000616020.5:c.773C>T | ENSP00000483636.2:p.Ala258Val | |
| ENST00000617701.5:c.*774C>T | ENSP00000481645.1:n.*774C>T | |
| ENST00000651139.1:c.-23C>T | ENSP00000498957.1:n.-23C>T | |
| ENST00000652354.1:c.443C>T | ENSP00000498734.1:p.Ala148Val | |
| ENST00000652358.1:c.554C>T | ENSP00000498464.1:p.Ala185Val | |
| ENST00000652390.1:c.680C>T | ENSP00000498858.1:p.Ala227Val | |
| ENST00000652476.1:n.1427C>T | ||
| ENST00000652644.1:c.374C>T | ENSP00000498496.1:p.Ala125Val | |
| ENST00000652682.1:c.818C>T | ENSP00000498288.1:p.Ala273Val | |
| ENST00000652685.1:n.1114C>T | ||
| ENST00000369776.8:c.671C>T | ENSP00000358791.4:p.Ala224Val | |
| ENST00000426231.5:c.758C>T | ||
| ENST00000475699.5:c.719C>T | ENSP00000419854.2:p.Ala240Val | |
| ENST00000494912.5:n.1450C>T | ||
| ENST00000498029.1:n.219C>T | ||
| ENST00000601016.5:c.761C>T | ENSP00000469981.1:p.Ala254Val | |
| ENST00000612460.4:c.671C>T | ENSP00000481037.1:p.Ala224Val | |
| ENST00000613002.4:c.629C>T | ENSP00000478154.1:p.Ala210Val | |
| ENST00000615986.4:c.*489C>T | ENSP00000480133.1:n.*489C>T | |
| NM_000116.4:c.761C>T | NP_000107.1:p.Ala254Val | |
| NM_001303465.1:c.773C>T | NP_001290394.1:p.Ala258Val | |
| NM_181311.3:c.671C>T | NP_851828.1:p.Ala224Val | |
| NM_181312.3:c.719C>T | NP_851829.1:p.Ala240Val | |
| NM_181313.3:c.629C>T | NP_851830.1:p.Ala210Val | |
| NR_024048.2:n.1103C>T | ||
| XM_006724836.1:c.815C>T | XP_006724899.1:p.Ala272Val | |
| XM_006724837.1:c.800C>T | XP_006724900.1:p.Ala267Val | |
| XM_006724839.1:c.683C>T | XP_006724902.1:p.Ala228Val | |
| XM_006724841.2:c.554C>T | XP_006724904.1:p.Ala185Val | |
| XM_006724842.2:c.464C>T | XP_006724905.1:p.Ala155Val | |
| XM_011531189.1:c.602C>T | XP_011529491.1:p.Ala201Val | |
| XM_011531190.1:c.554C>T | XP_011529492.1:p.Ala185Val | |
| XM_011531191.1:c.485C>T | XP_011529493.1:p.Ala162Val | |
| XM_011531192.1:c.482C>T | XP_011529494.1:p.Ala161Val | |
| XR_938511.1:n.1109C>T | ||
| XM_006724841.4:c.554C>T | XP_006724904.1:p.Ala185Val | |
| XM_006724842.4:c.464C>T | XP_006724905.1:p.Ala155Val | |
| XM_011531191.2:c.485C>T | XP_011529493.1:p.Ala162Val | |
| XM_017029761.1:c.746C>T | XP_016885250.1:p.Ala249Val | |
| XM_017029762.1:c.725C>T | XP_016885251.1:p.Ala242Val | |
| XM_017029763.1:c.548C>T | XP_016885252.1:p.Ala183Val | |
| XM_017029764.1:c.482C>T | XP_016885253.1:p.Ala161Val | |
| XM_017029765.2:c.422C>T | XP_016885254.1:p.Ala141Val | |
| XM_024452431.1:c.719C>T | XP_024308199.1:p.Ala240Val | |
| NM_000116.5:c.761C>T MANE Select | NP_000107.1:p.Ala254Val | |
| NM_001303465.2:c.773C>T | NP_001290394.1:p.Ala258Val | |
| NM_181311.4:c.671C>T | NP_851828.1:p.Ala224Val | |
| NM_181312.4:c.719C>T | NP_851829.1:p.Ala240Val | |
| NM_181313.4:c.629C>T | NP_851830.1:p.Ala210Val | |
| NR_024048.3:n.1082C>T |