Linked Data
ClinVar Variation Id:
306535
dbSNP Id:
rs76784113
ExAC:
11:95568581 G / C
gnomAD v2:
11-95568581-G-C
gnomAD v3:
11-95835417-G-C
gnomAD v4:
11-95835417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95835417G>C , CM000673.2:g.95835417G>C | GRCh38 |
| NC_000011.9:g.95568581G>C , CM000673.1:g.95568581G>C | GRCh37 |
| NC_000011.8:g.95208229G>C | NCBI36 |
| NG_008333.1:g.93791C>G , LRG_257:g.93791C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.1805C>G MANE Select | ENSP00000345752.6:p.Ala602Gly | |
| ENST00000393223.8:c.1589C>G | ENSP00000376915.3:p.Ala530Gly | |
| ENST00000444541.7:c.1589C>G | ENSP00000396020.2:p.Ala530Gly | |
| ENST00000470293.6:c.1589C>G | ENSP00000502515.1:p.Ala530Gly | |
| ENST00000481642.6:c.1589C>G | ENSP00000502505.1:p.Ala530Gly | |
| ENST00000484818.6:c.1589C>G | ENSP00000501963.1:p.Ala530Gly | |
| ENST00000495134.6:c.1589C>G | ENSP00000501894.1:p.Ala530Gly | |
| ENST00000497683.6:c.1589C>G | ENSP00000501753.1:p.Ala530Gly | |
| ENST00000674528.1:c.1589C>G | ENSP00000501567.1:p.Ala530Gly | |
| ENST00000674610.1:c.1589C>G | ENSP00000501688.1:p.Ala530Gly | |
| ENST00000674901.1:n.2943C>G | ||
| ENST00000674924.1:c.1589C>G | ENSP00000502433.1:p.Ala530Gly | |
| ENST00000674950.1:c.*1994C>G | ENSP00000502425.1:n.*1994C>G | |
| ENST00000674968.1:c.1589C>G | ENSP00000502567.1:p.Ala530Gly | |
| ENST00000674974.1:c.*1740C>G | ENSP00000502337.1:n.*1740C>G | |
| ENST00000674989.1:c.1589C>G | ENSP00000502829.1:p.Ala530Gly | |
| ENST00000675022.1:c.1619C>G | ENSP00000502722.1:p.Ala540Gly | |
| ENST00000675024.1:n.2976C>G | ||
| ENST00000675030.1:c.*4974C>G | ENSP00000502386.1:n.*4974C>G | |
| ENST00000675034.1:n.2964C>G | ||
| ENST00000675174.1:c.1589C>G | ENSP00000502032.1:p.Ala530Gly | |
| ENST00000675196.1:c.1589C>G | ENSP00000501867.1:p.Ala530Gly | |
| ENST00000675237.1:n.2968C>G | ||
| ENST00000675288.1:c.1457C>G | ENSP00000501942.1:p.Ala486Gly | |
| ENST00000675320.1:c.*1602C>G | ENSP00000502076.1:n.*1602C>G | |
| ENST00000675362.1:c.1589C>G | ENSP00000501989.1:p.Ala530Gly | |
| ENST00000675413.1:n.2766C>G | ||
| ENST00000675438.1:c.1496C>G | ENSP00000502388.1:p.Ala499Gly | |
| ENST00000675454.1:c.1589C>G | ENSP00000501781.1:p.Ala530Gly | |
| ENST00000675477.1:c.1589C>G | ENSP00000501751.1:p.Ala530Gly | |
| ENST00000675489.1:c.1589C>G | ENSP00000501702.1:p.Ala530Gly | |
| ENST00000675495.1:n.2877C>G | ||
| ENST00000675636.1:c.1589C>G | ENSP00000501850.1:p.Ala530Gly | |
| ENST00000675652.1:c.1589C>G | ENSP00000502694.1:p.Ala530Gly | |
| ENST00000675660.1:c.1457C>G | ENSP00000502824.1:p.Ala486Gly | |
| ENST00000675767.1:n.2857C>G | ||
| ENST00000675807.1:c.1457C>G | ENSP00000501640.1:p.Ala486Gly | |
| ENST00000675848.1:c.1457C>G | ENSP00000502057.1:p.Ala486Gly | |
| ENST00000675896.1:c.*1718C>G | ENSP00000502487.1:n.*1718C>G | |
| ENST00000675910.1:c.*1743C>G | ENSP00000502622.1:n.*1743C>G | |
| ENST00000675922.1:c.*1696C>G | ENSP00000502168.1:n.*1696C>G | |
| ENST00000675933.1:c.1589C>G | ENSP00000502575.1:p.Ala530Gly | |
| ENST00000675957.1:n.2867C>G | ||
| ENST00000675981.1:c.1589C>G | ENSP00000502204.1:p.Ala530Gly | |
| ENST00000676027.1:c.1457C>G | ENSP00000502405.1:p.Ala486Gly | |
| ENST00000676146.1:c.*1416C>G | ENSP00000502583.1:n.*1416C>G | |
| ENST00000676166.1:c.1589C>G | ENSP00000501632.1:p.Ala530Gly | |
| ENST00000676177.1:c.*1718C>G | ENSP00000501635.1:n.*1718C>G | |
| ENST00000676261.1:c.1589C>G | ENSP00000501675.1:p.Ala530Gly | |
| ENST00000676268.1:c.*1123C>G | ENSP00000502444.1:n.*1123C>G | |
| ENST00000676272.1:c.1589C>G | ENSP00000501601.1:p.Ala530Gly | |
| ENST00000676378.1:c.1589C>G | ENSP00000502736.1:p.Ala530Gly | |
| ENST00000676388.1:c.*1545C>G | ENSP00000501866.1:n.*1545C>G | |
| ENST00000676393.1:n.2841C>G | ||
| ENST00000676432.1:n.3007C>G | ||
| ENST00000676440.1:c.1589C>G | ENSP00000501926.1:p.Ala530Gly | |
| ENST00000346299.9:c.1805C>G | ENSP00000345752.5:p.Ala602Gly | |
| ENST00000352297.11:c.1589C>G | ENSP00000343737.7:p.Ala530Gly | |
| ENST00000393223.7:c.1589C>G | ENSP00000376915.3:p.Ala530Gly | |
| ENST00000409459.5:c.1589C>G | ENSP00000386882.1:p.Ala530Gly | |
| ENST00000444541.6:c.1589C>G | ENSP00000396020.1:p.Ala530Gly | |
| NM_001243571.1:c.1589C>G | NP_001230500.1:p.Ala530Gly | |
| NM_016156.5:c.1805C>G , LRG_257t1:c.1805C>G | NP_057240.3:p.Ala602Gly | |
| NM_201278.2:c.1589C>G | NP_958435.1:p.Ala530Gly | |
| NM_201281.2:c.1589C>G | NP_958438.1:p.Ala530Gly | |
| XM_005274374.1:c.1589C>G | XP_005274431.1:p.Ala530Gly | |
| XM_005274375.1:c.1589C>G | XP_005274432.1:p.Ala530Gly | |
| XM_006718934.1:c.1589C>G | XP_006718997.1:p.Ala530Gly | |
| XM_006718935.1:c.1589C>G | XP_006718998.1:p.Ala530Gly | |
| XM_006718936.2:c.1589C>G | XP_006718999.1:p.Ala530Gly | |
| XM_011543058.1:c.1664C>G | XP_011541360.1:p.Ala555Gly | |
| XM_011543059.1:c.1664C>G | XP_011541361.1:p.Ala555Gly | |
| XM_005274374.3:c.1589C>G | XP_005274431.1:p.Ala530Gly | |
| XM_005274375.3:c.1589C>G | XP_005274432.1:p.Ala530Gly | |
| NM_001243571.2:c.1589C>G | NP_001230500.1:p.Ala530Gly | |
| NM_016156.6:c.1805C>G MANE Select | NP_057240.3:p.Ala602Gly | |
| NM_201278.3:c.1589C>G | NP_958435.1:p.Ala530Gly | |
| NM_201281.3:c.1589C>G | NP_958438.1:p.Ala530Gly |