Linked Data
ClinVar Variation Id:
234848
dbSNP Id:
rs574213477
ExAC:
11:95657063 G / A
gnomAD v2:
11-95657063-G-A
gnomAD v3:
11-95923899-G-A
gnomAD v4:
11-95923899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95923899G>A , CM000673.2:g.95923899G>A | GRCh38 |
| NC_000011.9:g.95657063G>A , CM000673.1:g.95657063G>A | GRCh37 |
| NC_000011.8:g.95296711G>A | NCBI36 |
| NG_008333.1:g.5309C>T , LRG_257:g.5309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.56C>T MANE Select | ENSP00000345752.6:p.Pro19Leu | |
| ENST00000393223.8:c.-253C>T | ENSP00000376915.3:n.-253C>T | |
| ENST00000481642.6:c.-389C>T | ENSP00000502505.1:n.-389C>T | |
| ENST00000674950.1:c.56C>T | ENSP00000502425.1:p.Pro19Leu | |
| ENST00000674974.1:c.56C>T | ENSP00000502337.1:p.Pro19Leu | |
| ENST00000674989.1:c.-229C>T | ENSP00000502829.1:n.-229C>T | |
| ENST00000675022.1:c.56C>T | ENSP00000502722.1:p.Pro19Leu | |
| ENST00000675024.1:n.209C>T | ||
| ENST00000675030.1:c.56C>T | ENSP00000502386.1:p.Pro19Leu | |
| ENST00000675174.1:c.-282C>T | ENSP00000502032.1:n.-282C>T | |
| ENST00000675196.1:c.-488C>T | ENSP00000501867.1:n.-488C>T | |
| ENST00000675320.1:c.56C>T | ENSP00000502076.1:p.Pro19Leu | |
| ENST00000675362.1:c.-326C>T | ENSP00000501989.1:n.-326C>T | |
| ENST00000675489.1:c.-428C>T | ENSP00000501702.1:n.-428C>T | |
| ENST00000675495.1:n.233C>T | ||
| ENST00000675652.1:c.-126C>T | ENSP00000502694.1:n.-126C>T | |
| ENST00000675767.1:n.203C>T | ||
| ENST00000675848.1:c.-525C>T | ENSP00000502057.1:n.-525C>T | |
| ENST00000675896.1:c.56C>T | ENSP00000502487.1:p.Pro19Leu | |
| ENST00000675910.1:c.56C>T | ENSP00000502622.1:p.Pro19Leu | |
| ENST00000675922.1:c.56C>T | ENSP00000502168.1:p.Pro19Leu | |
| ENST00000676027.1:c.-598C>T | ENSP00000502405.1:n.-598C>T | |
| ENST00000676146.1:c.56C>T | ENSP00000502583.1:p.Pro19Leu | |
| ENST00000676177.1:c.56C>T | ENSP00000501635.1:p.Pro19Leu | |
| ENST00000676261.1:c.-355C>T | ENSP00000501675.1:n.-355C>T | |
| ENST00000676268.1:c.56C>T | ENSP00000502444.1:p.Pro19Leu | |
| ENST00000676272.1:c.-55C>T | ENSP00000501601.1:n.-55C>T | |
| ENST00000676388.1:c.56C>T | ENSP00000501866.1:p.Pro19Leu | |
| ENST00000676432.1:n.202C>T | ||
| ENST00000346299.9:c.56C>T | ENSP00000345752.5:p.Pro19Leu | |
| ENST00000352297.11:c.-232C>T | ENSP00000343737.7:n.-232C>T | |
| ENST00000393223.7:c.-161C>T | ENSP00000376915.3:n.-161C>T | |
| ENST00000409459.5:c.-305C>T | ENSP00000386882.1:n.-305C>T | |
| ENST00000470011.5:n.292C>T | ||
| ENST00000481642.5:n.209C>T | ||
| NM_001243571.1:c.-428C>T | NP_001230500.1:n.-428C>T | |
| NM_016156.5:c.56C>T , LRG_257t1:c.56C>T | NP_057240.3:p.Pro19Leu | |
| NM_201278.2:c.-355C>T | NP_958435.1:n.-355C>T | |
| NM_201281.2:c.-232C>T | NP_958438.1:n.-232C>T | |
| XM_005274375.1:c.-284C>T | XP_005274432.1:n.-284C>T | |
| XM_006718934.1:c.-305C>T | XP_006718997.1:n.-305C>T | |
| XM_006718936.2:c.-234C>T | XP_006718999.1:n.-234C>T | |
| XM_011543058.1:c.-314C>T | XP_011541360.1:n.-314C>T | |
| XM_005274375.3:c.-284C>T | XP_005274432.1:n.-284C>T | |
| NM_001243571.2:c.-428C>T | NP_001230500.1:n.-428C>T | |
| NM_016156.6:c.56C>T MANE Select | NP_057240.3:p.Pro19Leu | |
| NM_201278.3:c.-355C>T | NP_958435.1:n.-355C>T | |
| NM_201281.3:c.-232C>T | NP_958438.1:n.-232C>T |