Linked Data
ClinVar Variation Id:
13269
dbSNP Id:
rs121918492
gnomAD v3:
10-121517372-G-C
gnomAD v4:
10-121517372-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121517372G>C , CM000672.2:g.121517372G>C | GRCh38 |
| NC_000010.10:g.123276886G>C , CM000672.1:g.123276886G>C | GRCh37 |
| NC_000010.9:g.123266876G>C | NCBI36 |
| NG_012449.1:g.86087C>G | |
| NG_012449.2:g.86087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1087+1310C>G MANE Plus Clinical | ENSP00000410294.2:n.1087+1310C>G | |
| ENST00000351936.11:c.1031C>G | ENSP00000309878.10:p.Ala344Gly | |
| ENST00000638709.2:c.-140C>G | ENSP00000491912.2:n.-140C>G | |
| ENST00000682296.1:n.379C>G | ||
| ENST00000682400.1:n.686C>G | ||
| ENST00000682550.1:c.686C>G | ENSP00000507633.1:p.Ala229Gly | |
| ENST00000682772.1:c.-140C>G | ENSP00000506848.1:n.-140C>G | |
| ENST00000683211.1:c.1031C>G | ENSP00000508257.1:p.Ala344Gly | |
| ENST00000683250.1:c.404-13431C>G | ENSP00000506847.1:n.404-13431C>G | |
| ENST00000683418.1:n.3378C>G | ||
| ENST00000683678.1:n.1031C>G | ||
| ENST00000684153.1:c.686C>G | ENSP00000506937.1:p.Ala229Gly | |
| ENST00000358487.10:c.1031C>G MANE Select | ENSP00000351276.6:p.Ala344Gly | |
| ENST00000336553.10:c.764C>G | ENSP00000337665.6:p.Ala255Gly | |
| ENST00000346997.6:c.1031C>G | ENSP00000263451.5:p.Ala344Gly | |
| ENST00000351936.10:c.1037C>G | ENSP00000309878.9:p.Ala346Gly | |
| ENST00000356226.8:c.686C>G | ENSP00000348559.4:p.Ala229Gly | |
| ENST00000357555.9:c.764C>G | ENSP00000350166.5:p.Ala255Gly | |
| ENST00000358487.9:c.1031C>G | ENSP00000351276.5:p.Ala344Gly | |
| ENST00000360144.7:c.820+1310C>G | ENSP00000353262.3:n.820+1310C>G | |
| ENST00000369056.5:c.1087+1310C>G | ENSP00000358052.1:n.1087+1310C>G | |
| ENST00000369058.7:c.1087+1310C>G | ENSP00000358054.3:n.1087+1310C>G | |
| ENST00000369059.5:c.742+1310C>G | ENSP00000358055.1:n.742+1310C>G | |
| ENST00000369060.8:c.939+2607C>G | ENSP00000358056.4:n.939+2607C>G | |
| ENST00000369061.8:c.749-2053C>G | ENSP00000358057.4:n.749-2053C>G | |
| ENST00000457416.6:c.1087+1310C>G | ENSP00000410294.2:n.1087+1310C>G | |
| ENST00000463870.5:n.240C>G | ||
| ENST00000478859.5:c.347C>G | ENSP00000474011.1:p.Ala116Gly | |
| ENST00000490349.5:n.1440C>G | ||
| ENST00000604236.5:c.*78C>G | ENSP00000474109.1:n.*78C>G | |
| ENST00000613048.4:c.764C>G | ENSP00000484154.1:p.Ala255Gly | |
| NM_000141.4:c.1031C>G | NP_000132.3:p.Ala344Gly | |
| NM_001144913.1:c.1087+1310C>G | NP_001138385.1:n.1087+1310C>G | |
| NM_001144914.1:c.749-2053C>G | NP_001138386.1:n.749-2053C>G | |
| NM_001144915.1:c.764C>G | NP_001138387.1:p.Ala255Gly | |
| NM_001144916.1:c.686C>G | NP_001138388.1:p.Ala229Gly | |
| NM_001144917.1:c.939+2607C>G | NP_001138389.1:n.939+2607C>G | |
| NM_001144918.1:c.686C>G | NP_001138390.1:p.Ala229Gly | |
| NM_001144919.1:c.820+1310C>G | NP_001138391.1:n.820+1310C>G | |
| NM_022970.3:c.1087+1310C>G | NP_075259.4:n.1087+1310C>G | |
| NM_023029.2:c.764C>G | NP_075418.1:p.Ala255Gly | |
| NR_073009.1:n.1481C>G | ||
| XM_006717708.2:c.1144+1310C>G | XP_006717771.1:n.1144+1310C>G | |
| XM_006717709.2:c.1088C>G | XP_006717772.1:p.Ala363Gly | |
| XM_006717710.2:c.1144+1310C>G | XP_006717773.1:n.1144+1310C>G | |
| XM_006717711.2:c.877+1310C>G | XP_006717774.1:n.877+1310C>G | |
| XM_006717712.2:c.799+1310C>G | XP_006717775.1:n.799+1310C>G | |
| XM_006717713.2:c.1088C>G | XP_006717776.1:p.Ala363Gly | |
| XM_011539510.1:c.347C>G | XP_011537812.1:p.Ala116Gly | |
| NM_001320654.1:c.347C>G | NP_001307583.1:p.Ala116Gly | |
| NM_001320658.1:c.1031C>G | NP_001307587.1:p.Ala344Gly | |
| XM_006717708.3:c.1144+1310C>G | XP_006717771.1:n.1144+1310C>G | |
| XM_006717710.4:c.1144+1310C>G | XP_006717773.1:n.1144+1310C>G | |
| XM_017015920.2:c.1144+1310C>G | XP_016871409.1:n.1144+1310C>G | |
| XM_017015921.2:c.1088C>G | XP_016871410.1:p.Ala363Gly | |
| XM_017015924.2:c.743C>G | XP_016871413.1:p.Ala248Gly | |
| XM_017015925.2:c.743C>G | XP_016871414.1:p.Ala248Gly | |
| XM_024447887.1:c.821C>G | XP_024303655.1:p.Ala274Gly | |
| XM_024447888.1:c.877+1310C>G | XP_024303656.1:n.877+1310C>G | |
| XM_024447889.1:c.821C>G | XP_024303657.1:p.Ala274Gly | |
| XM_024447890.1:c.877+1310C>G | XP_024303658.1:n.877+1310C>G | |
| XM_024447891.1:c.799+1310C>G | XP_024303659.1:n.799+1310C>G | |
| XM_024447892.1:c.-140C>G | XP_024303660.1:n.-140C>G | |
| NM_000141.5:c.1031C>G MANE Select | NP_000132.3:p.Ala344Gly | |
| NM_001144917.2:c.939+2607C>G | NP_001138389.1:n.939+2607C>G | |
| NM_001144918.2:c.686C>G | NP_001138390.1:p.Ala229Gly | |
| NM_001144919.2:c.820+1310C>G | NP_001138391.1:n.820+1310C>G | |
| NM_001320658.2:c.1031C>G | NP_001307587.1:p.Ala344Gly | |
| NR_073009.2:n.1467C>G | ||
| NM_001144915.2:c.764C>G | NP_001138387.1:p.Ala255Gly | |
| NM_001144916.2:c.686C>G | NP_001138388.1:p.Ala229Gly | |
| NM_001320654.2:c.347C>G | NP_001307583.1:p.Ala116Gly |