Linked Data
ClinVar Variation Id:
299003
ClinVar RCV Id:
RCV000308682
RCV000305286
RCV000317604
RCV000360045
RCV000402531
RCV004544500
RCV002059523
dbSNP Id:
rs147674677
ExAC:
10:123274679 C / T
gnomAD v2:
10-123274679-C-T
gnomAD v3:
10-121515165-C-T
gnomAD v4:
10-121515165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121515165C>T , CM000672.2:g.121515165C>T | GRCh38 |
| NC_000010.10:g.123274679C>T , CM000672.1:g.123274679C>T | GRCh37 |
| NC_000010.9:g.123264669C>T | NCBI36 |
| NG_012449.1:g.88294G>A | |
| NG_012449.2:g.88294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1242G>A MANE Plus Clinical | ENSP00000410294.2:p.Pro414= | |
| ENST00000351936.11:c.1239G>A | ENSP00000309878.10:p.Pro413= | |
| ENST00000638709.2:c.69G>A | ENSP00000491912.2:p.Pro23= | |
| ENST00000682296.1:n.587G>A | ||
| ENST00000682550.1:c.894G>A | ENSP00000507633.1:p.Pro298= | |
| ENST00000682772.1:c.69G>A | ENSP00000506848.1:p.Pro23= | |
| ENST00000683211.1:c.1239G>A | ENSP00000508257.1:p.Pro413= | |
| ENST00000683250.1:c.404-11224G>A | ENSP00000506847.1:n.404-11224G>A | |
| ENST00000683418.1:n.3586G>A | ||
| ENST00000684153.1:c.894G>A | ENSP00000506937.1:p.Pro298= | |
| ENST00000358487.10:c.1239G>A MANE Select | ENSP00000351276.6:p.Pro413= | |
| ENST00000336553.10:c.972G>A | ENSP00000337665.6:p.Pro324= | |
| ENST00000346997.6:c.1239G>A | ENSP00000263451.5:p.Pro413= | |
| ENST00000351936.10:c.1245G>A | ENSP00000309878.9:p.Pro415= | |
| ENST00000356226.8:c.894G>A | ENSP00000348559.4:p.Pro298= | |
| ENST00000357555.9:c.972G>A | ENSP00000350166.5:p.Pro324= | |
| ENST00000358487.9:c.1239G>A | ENSP00000351276.5:p.Pro413= | |
| ENST00000360144.7:c.975G>A | ENSP00000353262.3:p.Pro325= | |
| ENST00000369056.5:c.1242G>A | ENSP00000358052.1:p.Pro414= | |
| ENST00000369058.7:c.1242G>A | ENSP00000358054.3:p.Pro414= | |
| ENST00000369059.5:c.897G>A | ENSP00000358055.1:p.Pro299= | |
| ENST00000369060.8:c.939+4814G>A | ENSP00000358056.4:n.939+4814G>A | |
| ENST00000369061.8:c.903G>A | ENSP00000358057.4:p.Pro301= | |
| ENST00000429361.5:c.15G>A | ENSP00000404219.1:p.Pro5= | |
| ENST00000457416.6:c.1242G>A | ENSP00000410294.2:p.Pro414= | |
| ENST00000478859.5:c.555G>A | ENSP00000474011.1:p.Pro185= | |
| ENST00000604236.5:c.*286G>A | ENSP00000474109.1:n.*286G>A | |
| ENST00000613048.4:c.972G>A | ENSP00000484154.1:p.Pro324= | |
| NM_000141.4:c.1239G>A | NP_000132.3:p.Pro413= | |
| NM_001144913.1:c.1242G>A | NP_001138385.1:p.Pro414= | |
| NM_001144914.1:c.903G>A | NP_001138386.1:p.Pro301= | |
| NM_001144915.1:c.972G>A | NP_001138387.1:p.Pro324= | |
| NM_001144916.1:c.894G>A | NP_001138388.1:p.Pro298= | |
| NM_001144917.1:c.939+4814G>A | NP_001138389.1:n.939+4814G>A | |
| NM_001144918.1:c.894G>A | NP_001138390.1:p.Pro298= | |
| NM_001144919.1:c.975G>A | NP_001138391.1:p.Pro325= | |
| NM_022970.3:c.1242G>A | NP_075259.4:p.Pro414= | |
| NM_023029.2:c.972G>A | NP_075418.1:p.Pro324= | |
| NR_073009.1:n.1689G>A | ||
| XM_006717708.2:c.1299G>A | XP_006717771.1:p.Pro433= | |
| XM_006717709.2:c.1296G>A | XP_006717772.1:p.Pro432= | |
| XM_006717710.2:c.1299G>A | XP_006717773.1:p.Pro433= | |
| XM_006717711.2:c.1032G>A | XP_006717774.1:p.Pro344= | |
| XM_006717712.2:c.954G>A | XP_006717775.1:p.Pro318= | |
| XM_006717713.2:c.1296G>A | XP_006717776.1:p.Pro432= | |
| XM_011539510.1:c.555G>A | XP_011537812.1:p.Pro185= | |
| NM_001320654.1:c.555G>A | NP_001307583.1:p.Pro185= | |
| NM_001320658.1:c.1239G>A | NP_001307587.1:p.Pro413= | |
| XM_006717708.3:c.1299G>A | XP_006717771.1:p.Pro433= | |
| XM_006717710.4:c.1299G>A | XP_006717773.1:p.Pro433= | |
| XM_017015920.2:c.1299G>A | XP_016871409.1:p.Pro433= | |
| XM_017015921.2:c.1296G>A | XP_016871410.1:p.Pro432= | |
| XM_017015924.2:c.951G>A | XP_016871413.1:p.Pro317= | |
| XM_017015925.2:c.951G>A | XP_016871414.1:p.Pro317= | |
| XM_024447887.1:c.1029G>A | XP_024303655.1:p.Pro343= | |
| XM_024447888.1:c.1032G>A | XP_024303656.1:p.Pro344= | |
| XM_024447889.1:c.1029G>A | XP_024303657.1:p.Pro343= | |
| XM_024447890.1:c.1032G>A | XP_024303658.1:p.Pro344= | |
| XM_024447891.1:c.954G>A | XP_024303659.1:p.Pro318= | |
| XM_024447892.1:c.69G>A | XP_024303660.1:p.Pro23= | |
| NM_000141.5:c.1239G>A MANE Select | NP_000132.3:p.Pro413= | |
| NM_001144917.2:c.939+4814G>A | NP_001138389.1:n.939+4814G>A | |
| NM_001144918.2:c.894G>A | NP_001138390.1:p.Pro298= | |
| NM_001144919.2:c.975G>A | NP_001138391.1:p.Pro325= | |
| NM_001320658.2:c.1239G>A | NP_001307587.1:p.Pro413= | |
| NR_073009.2:n.1675G>A | ||
| NM_001144915.2:c.972G>A | NP_001138387.1:p.Pro324= | |
| NM_001144916.2:c.894G>A | NP_001138388.1:p.Pro298= | |
| NM_001320654.2:c.555G>A | NP_001307583.1:p.Pro185= |