Linked Data
dbSNP Id:
rs1487268900
gnomAD v2:
X-153648703-A-G
gnomAD v3:
X-154420364-A-G
gnomAD v4:
X-154420364-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420364A>G , CM000685.2:g.154420364A>G | GRCh38 |
| NC_000023.10:g.153648703A>G , CM000685.1:g.153648703A>G | GRCh37 |
| NC_000023.9:g.153301897A>G | NCBI36 |
| NG_009634.1:g.13827A>G | |
| NG_009634.2:g.13830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1509+100A>G | ||
| ENST00000698317.1:n.2125+100A>G | ||
| ENST00000698318.1:n.1908+100A>G | ||
| ENST00000698319.1:n.1271+100A>G | ||
| ENST00000698320.1:n.1159+100A>G | ||
| ENST00000470127.2:n.1172+100A>G | ||
| ENST00000475699.6:c.663+100A>G | ENSP00000419854.3:n.663+100A>G | |
| ENST00000483674.3:n.581+100A>G | ||
| ENST00000601016.6:c.699+100A>G MANE Select | ENSP00000469981.1:n.699+100A>G | |
| ENST00000612012.5:c.657+100A>G | ENSP00000482070.2:n.657+100A>G | |
| ENST00000612460.5:c.609+100A>G | ENSP00000481037.1:n.609+100A>G | |
| ENST00000614595.2:n.2046+100A>G | ||
| ENST00000615658.5:n.1288+100A>G | ||
| ENST00000616020.5:c.711+100A>G | ENSP00000483636.2:n.711+100A>G | |
| ENST00000617701.5:c.*712+100A>G | ENSP00000481645.1:n.*712+100A>G | |
| ENST00000651139.1:c.-180A>G | ENSP00000498957.1:n.-180A>G | |
| ENST00000652354.1:c.381+100A>G | ENSP00000498734.1:n.381+100A>G | |
| ENST00000652358.1:c.492+100A>G | ENSP00000498464.1:n.492+100A>G | |
| ENST00000652390.1:c.618+100A>G | ENSP00000498858.1:n.618+100A>G | |
| ENST00000652476.1:n.1365+100A>G | ||
| ENST00000652644.1:c.312+100A>G | ENSP00000498496.1:n.312+100A>G | |
| ENST00000652682.1:c.756+100A>G | ENSP00000498288.1:n.756+100A>G | |
| ENST00000652685.1:n.1052+100A>G | ||
| ENST00000369776.8:c.609+100A>G | ENSP00000358791.4:n.609+100A>G | |
| ENST00000426231.5:c.696+100A>G | ||
| ENST00000475699.5:c.657+100A>G | ENSP00000419854.2:n.657+100A>G | |
| ENST00000494912.5:n.1388+100A>G | ||
| ENST00000498029.1:n.157+100A>G | ||
| ENST00000601016.5:c.699+100A>G | ENSP00000469981.1:n.699+100A>G | |
| ENST00000612460.4:c.609+100A>G | ENSP00000481037.1:n.609+100A>G | |
| ENST00000613002.4:c.567+100A>G | ENSP00000478154.1:n.567+100A>G | |
| ENST00000615986.4:c.*427+100A>G | ENSP00000480133.1:n.*427+100A>G | |
| NM_000116.4:c.699+100A>G | NP_000107.1:n.699+100A>G | |
| NM_001303465.1:c.711+100A>G | NP_001290394.1:n.711+100A>G | |
| NM_181311.3:c.609+100A>G | NP_851828.1:n.609+100A>G | |
| NM_181312.3:c.657+100A>G | NP_851829.1:n.657+100A>G | |
| NM_181313.3:c.567+100A>G | NP_851830.1:n.567+100A>G | |
| NR_024048.2:n.1041+100A>G | ||
| XM_006724836.1:c.753+100A>G | XP_006724899.1:n.753+100A>G | |
| XM_006724837.1:c.738+100A>G | XP_006724900.1:n.738+100A>G | |
| XM_006724839.1:c.621+100A>G | XP_006724902.1:n.621+100A>G | |
| XM_006724841.2:c.492+100A>G | XP_006724904.1:n.492+100A>G | |
| XM_006724842.2:c.402+100A>G | XP_006724905.1:n.402+100A>G | |
| XM_011531189.1:c.540+100A>G | XP_011529491.1:n.540+100A>G | |
| XM_011531190.1:c.492+100A>G | XP_011529492.1:n.492+100A>G | |
| XM_011531191.1:c.423+100A>G | XP_011529493.1:n.423+100A>G | |
| XM_011531192.1:c.420+100A>G | XP_011529494.1:n.420+100A>G | |
| XR_938511.1:n.1047+100A>G | ||
| XM_006724841.4:c.492+100A>G | XP_006724904.1:n.492+100A>G | |
| XM_006724842.4:c.402+100A>G | XP_006724905.1:n.402+100A>G | |
| XM_011531191.2:c.423+100A>G | XP_011529493.1:n.423+100A>G | |
| XM_017029761.1:c.684+100A>G | XP_016885250.1:n.684+100A>G | |
| XM_017029762.1:c.663+100A>G | XP_016885251.1:n.663+100A>G | |
| XM_017029763.1:c.486+100A>G | XP_016885252.1:n.486+100A>G | |
| XM_017029764.1:c.420+100A>G | XP_016885253.1:n.420+100A>G | |
| XM_017029765.2:c.360+100A>G | XP_016885254.1:n.360+100A>G | |
| XM_024452431.1:c.657+100A>G | XP_024308199.1:n.657+100A>G | |
| NM_000116.5:c.699+100A>G MANE Select | NP_000107.1:n.699+100A>G | |
| NM_001303465.2:c.711+100A>G | NP_001290394.1:n.711+100A>G | |
| NM_181311.4:c.609+100A>G | NP_851828.1:n.609+100A>G | |
| NM_181312.4:c.657+100A>G | NP_851829.1:n.657+100A>G | |
| NM_181313.4:c.567+100A>G | NP_851830.1:n.567+100A>G | |
| NR_024048.3:n.1020+100A>G |