Linked Data
dbSNP Id:
rs12098973
gnomAD v2:
11-131807171-A-G
gnomAD v3:
11-131937277-A-G
gnomAD v4:
11-131937277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.131937277A>G , CM000673.2:g.131937277A>G | GRCh38 |
| NC_000011.9:g.131807171A>G , CM000673.1:g.131807171A>G | GRCh37 |
| NC_000011.8:g.131312381A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683400.1:c.167+25629A>G MANE Select | ENSP00000507313.1:n.167+25629A>G | |
| ENST00000374784.5:c.167+25629A>G | ENSP00000363916.1:n.167+25629A>G | |
| ENST00000374786.5:c.167+25629A>G | ENSP00000363918.1:n.167+25629A>G | |
| ENST00000374791.7:c.167+25629A>G | ENSP00000363923.3:n.167+25629A>G | |
| ENST00000425719.6:c.167+25629A>G | ENSP00000396722.2:n.167+25629A>G | |
| ENST00000479431.1:n.208+25629A>G | ||
| ENST00000498764.5:n.143+25629A>G | ||
| ENST00000550167.5:c.140+25629A>G | ENSP00000448104.1:n.140+25629A>G | |
| NM_001048209.1:c.167+25629A>G | NP_001041674.1:n.167+25629A>G | |
| NM_001144058.1:c.167+25629A>G | NP_001137530.1:n.167+25629A>G | |
| NM_001144059.1:c.167+25629A>G | NP_001137531.1:n.167+25629A>G | |
| NM_016522.2:c.167+25629A>G | NP_057606.1:n.167+25629A>G | |
| XM_005271580.2:c.167+25629A>G | XP_005271637.1:n.167+25629A>G | |
| XM_005271581.2:c.167+25629A>G | XP_005271638.1:n.167+25629A>G | |
| XM_005271582.2:c.167+25629A>G | XP_005271639.1:n.167+25629A>G | |
| XM_006718854.2:c.140+25629A>G | XP_006718917.1:n.140+25629A>G | |
| XM_006718855.2:c.140+25629A>G | XP_006718918.1:n.140+25629A>G | |
| XM_006718856.2:c.44+25629A>G | XP_006718919.1:n.44+25629A>G | |
| XM_006718857.2:c.44+25629A>G | XP_006718920.1:n.44+25629A>G | |
| XM_011542860.1:c.110+25629A>G | XP_011541162.1:n.110+25629A>G | |
| XM_011542861.1:c.167+25629A>G | XP_011541163.1:n.167+25629A>G | |
| XR_947829.1:n.339+25629A>G | ||
| NM_001352001.1:c.167+25629A>G | NP_001338930.1:n.167+25629A>G | |
| NM_001352002.1:c.167+25629A>G | NP_001338931.1:n.167+25629A>G | |
| NM_001352003.1:c.167+25629A>G | NP_001338932.1:n.167+25629A>G | |
| NM_001352004.1:c.167+25629A>G | NP_001338933.1:n.167+25629A>G | |
| NM_001352005.1:c.167+25629A>G | NP_001338934.1:n.167+25629A>G | |
| NM_001352006.1:c.140+25629A>G | NP_001338935.1:n.140+25629A>G | |
| NM_001352007.1:c.140+25629A>G | NP_001338936.1:n.140+25629A>G | |
| NM_001352008.1:c.110+25629A>G | NP_001338937.1:n.110+25629A>G | |
| NM_001352009.1:c.44+25629A>G | NP_001338938.1:n.44+25629A>G | |
| NR_147848.1:n.498+25629A>G | ||
| NR_147849.1:n.466+25629A>G | ||
| NR_147850.1:n.466+25629A>G | ||
| NR_147851.1:n.831+25629A>G | ||
| NR_147852.1:n.831+25629A>G | ||
| NR_147853.1:n.831+25629A>G | ||
| NR_147854.1:n.831+25629A>G | ||
| XM_011542861.2:c.167+25629A>G | XP_011541163.1:n.167+25629A>G | |
| XM_017017852.2:c.167+25629A>G | XP_016873341.1:n.167+25629A>G | |
| XM_017017854.1:c.167+25629A>G | XP_016873343.1:n.167+25629A>G | |
| XM_017017855.2:c.167+25629A>G | XP_016873344.1:n.167+25629A>G | |
| XM_017017856.1:c.140+25629A>G | XP_016873345.1:n.140+25629A>G | |
| XM_017017857.2:c.140+25629A>G | XP_016873346.1:n.140+25629A>G | |
| XM_017017858.2:c.140+25629A>G | XP_016873347.1:n.140+25629A>G | |
| XM_017017859.1:c.140+25629A>G | XP_016873348.1:n.140+25629A>G | |
| XM_017017860.2:c.44+25629A>G | XP_016873349.1:n.44+25629A>G | |
| XM_017017862.2:c.140+25629A>G | XP_016873351.1:n.140+25629A>G | |
| XM_017017863.1:c.44+25629A>G | XP_016873352.1:n.44+25629A>G | |
| XM_017017865.2:c.167+25629A>G | XP_016873354.1:n.167+25629A>G | |
| XM_017017866.2:c.44+25629A>G | XP_016873355.1:n.44+25629A>G | |
| XM_024448566.1:c.140+25629A>G | XP_024304334.1:n.140+25629A>G | |
| XM_024448567.1:c.110+25629A>G | XP_024304335.1:n.110+25629A>G | |
| XM_024448568.1:c.140+25629A>G | XP_024304336.1:n.140+25629A>G | |
| XM_024448569.1:c.44+25629A>G | XP_024304337.1:n.44+25629A>G | |
| XR_001747893.1:n.601+25629A>G | ||
| XR_001747894.2:n.666+25629A>G | ||
| XR_001747896.1:n.601+25629A>G | ||
| NM_001048209.2:c.167+25629A>G | NP_001041674.1:n.167+25629A>G | |
| NM_001352001.2:c.167+25629A>G | NP_001338930.1:n.167+25629A>G | |
| NM_001352003.2:c.167+25629A>G | NP_001338932.1:n.167+25629A>G | |
| NM_001352005.2:c.167+25629A>G MANE Select | NP_001338934.1:n.167+25629A>G | |
| NM_001352006.2:c.140+25629A>G | NP_001338935.1:n.140+25629A>G | |
| NM_001352007.2:c.140+25629A>G | NP_001338936.1:n.140+25629A>G | |
| NM_001352009.2:c.44+25629A>G | NP_001338938.1:n.44+25629A>G | |
| NR_147848.2:n.359+25629A>G | ||
| NR_147849.2:n.148+25629A>G | ||
| NR_147850.2:n.148+25629A>G | ||
| NM_001144058.2:c.167+25629A>G | NP_001137530.1:n.167+25629A>G | |
| NM_001144059.3:c.167+25629A>G | NP_001137531.1:n.167+25629A>G | |
| NM_001352002.2:c.167+25629A>G | NP_001338931.1:n.167+25629A>G | |
| NM_001352004.2:c.167+25629A>G | NP_001338933.1:n.167+25629A>G | |
| NM_001352008.2:c.110+25629A>G | NP_001338937.1:n.110+25629A>G | |
| NM_001386964.1:c.44+25629A>G | NP_001373893.1:n.44+25629A>G | |
| NM_001386965.1:c.-96+25629A>G | NP_001373894.1:n.-96+25629A>G | |
| NM_001386966.1:c.44+25629A>G | NP_001373895.1:n.44+25629A>G | |
| NM_001386967.1:c.45-22492A>G | NP_001373896.1:n.45-22492A>G | |
| NM_001386968.1:c.44+25629A>G | NP_001373897.1:n.44+25629A>G | |
| NM_001386969.1:c.44+25629A>G | NP_001373898.1:n.44+25629A>G | |
| NM_016522.3:c.167+25629A>G | NP_057606.1:n.167+25629A>G | |
| NR_147851.2:n.313+25629A>G | ||
| NR_147852.2:n.313+25629A>G | ||
| NR_147853.2:n.313+25629A>G | ||
| NR_147854.2:n.313+25629A>G | ||
| NR_170346.1:n.446+25629A>G | ||
| NR_170347.1:n.359+25629A>G | ||
| NR_170348.1:n.275-209005A>G | ||
| NR_170349.1:n.359+25629A>G | ||
| NR_170350.1:n.275-209005A>G | ||
| NR_170351.1:n.479+25629A>G | ||
| NR_170352.1:n.479+25629A>G | ||
| NR_170354.1:n.359+25629A>G | ||
| NR_170355.1:n.359+25629A>G | ||
| NR_170357.1:n.359+25629A>G | ||
| NR_170358.1:n.361+25629A>G | ||
| NR_170359.1:n.148+25629A>G | ||
| NR_170360.1:n.313+25629A>G | ||
| NR_170361.1:n.313+25629A>G | ||
| NR_170366.1:n.359+25629A>G |