Linked Data
ClinVar Variation Id:
134391
ClinVar RCV Id:
RCV000121065
dbSNP Id:
rs374993905
ExAC:
10:123239508 C / T
gnomAD v2:
10-123239508-C-T
gnomAD v4:
10-121479994-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121479994C>T , CM000672.2:g.121479994C>T | GRCh38 |
| NC_000010.10:g.123239508C>T , CM000672.1:g.123239508C>T | GRCh37 |
| NC_000010.9:g.123229498C>T | NCBI36 |
| NG_012449.1:g.123465G>A | |
| NG_012449.2:g.123465G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.2332G>A MANE Plus Clinical | ENSP00000410294.2:p.Glu778Lys | |
| ENST00000351936.11:c.2323G>A | ENSP00000309878.10:p.Glu775Lys | |
| ENST00000638709.2:c.1153G>A | ENSP00000491912.2:p.Glu385Lys | |
| ENST00000682296.1:n.1671G>A | ||
| ENST00000682550.1:c.1978G>A | ENSP00000507633.1:p.Glu660Lys | |
| ENST00000682772.1:c.1153G>A | ENSP00000506848.1:p.Glu385Lys | |
| ENST00000682904.1:n.1149G>A | ||
| ENST00000683029.1:n.2332G>A | ||
| ENST00000683211.1:c.2323G>A | ENSP00000508257.1:p.Glu775Lys | |
| ENST00000683250.1:c.*2622G>A | ENSP00000506847.1:n.*2622G>A | |
| ENST00000683418.1:n.4670G>A | ||
| ENST00000684153.1:c.*57G>A | ENSP00000506937.1:n.*57G>A | |
| ENST00000684516.1:n.3342G>A | ||
| ENST00000358487.10:c.2329G>A MANE Select | ENSP00000351276.6:p.Glu777Lys | |
| ENST00000638709.1:c.316G>A | ||
| ENST00000346997.6:c.2323G>A | ENSP00000263451.5:p.Glu775Lys | |
| ENST00000351936.10:c.2329G>A | ENSP00000309878.9:p.Glu777Lys | |
| ENST00000356226.8:c.1978G>A | ENSP00000348559.4:p.Glu660Lys | |
| ENST00000357555.9:c.2035-324G>A | ENSP00000350166.5:n.2035-324G>A | |
| ENST00000358487.9:c.2329G>A | ENSP00000351276.5:p.Glu777Lys | |
| ENST00000369059.5:c.1987G>A | ENSP00000358055.1:p.Glu663Lys | |
| ENST00000369060.8:c.1981G>A | ENSP00000358056.4:p.Glu661Lys | |
| ENST00000369061.8:c.1993G>A | ENSP00000358057.4:p.Glu665Lys | |
| ENST00000429361.5:c.999G>A | ENSP00000404219.1:p.Ser333= | |
| ENST00000457416.6:c.2332G>A | ENSP00000410294.2:p.Glu778Lys | |
| ENST00000467584.1:n.288G>A | ||
| ENST00000478859.5:c.1645G>A | ENSP00000474011.1:p.Glu549Lys | |
| ENST00000604236.5:c.*1376G>A | ENSP00000474109.1:n.*1376G>A | |
| ENST00000613048.4:c.2062G>A | ENSP00000484154.1:p.Glu688Lys | |
| NM_000141.4:c.2329G>A | NP_000132.3:p.Glu777Lys | |
| NM_001144914.1:c.1993G>A | NP_001138386.1:p.Glu665Lys | |
| NM_001144915.1:c.2035-324G>A | NP_001138387.1:n.2035-324G>A | |
| NM_001144916.1:c.1984G>A | NP_001138388.1:p.Glu662Lys | |
| NM_001144917.1:c.1981G>A | NP_001138389.1:p.Glu661Lys | |
| NM_001144918.1:c.1978G>A | NP_001138390.1:p.Glu660Lys | |
| NM_022970.3:c.2332G>A | NP_075259.4:p.Glu778Lys | |
| NM_023029.2:c.2062G>A | NP_075418.1:p.Glu688Lys | |
| NR_073009.1:n.2779G>A | ||
| XM_006717708.2:c.2383G>A | XP_006717771.1:p.Glu795Lys | |
| XM_006717709.2:c.2380G>A | XP_006717772.1:p.Glu794Lys | |
| XM_006717710.2:c.*57G>A | XP_006717773.1:n.*57G>A | |
| XM_006717711.2:c.2122G>A | XP_006717774.1:p.Glu708Lys | |
| XM_006717712.2:c.2044G>A | XP_006717775.1:p.Glu682Lys | |
| XM_006717713.2:c.*57G>A | XP_006717776.1:n.*57G>A | |
| XM_011539510.1:c.1645G>A | XP_011537812.1:p.Glu549Lys | |
| NM_001320654.1:c.1645G>A | NP_001307583.1:p.Glu549Lys | |
| NM_001320658.1:c.2323G>A | NP_001307587.1:p.Glu775Lys | |
| XM_006717708.3:c.2383G>A | XP_006717771.1:p.Glu795Lys | |
| XM_006717710.4:c.*57G>A | XP_006717773.1:n.*57G>A | |
| XM_017015920.2:c.*57G>A | XP_016871409.1:n.*57G>A | |
| XM_017015921.2:c.*57G>A | XP_016871410.1:n.*57G>A | |
| XM_017015924.2:c.2041G>A | XP_016871413.1:p.Glu681Lys | |
| XM_017015925.2:c.*57G>A | XP_016871414.1:n.*57G>A | |
| XM_024447887.1:c.2119G>A | XP_024303655.1:p.Glu707Lys | |
| XM_024447888.1:c.2116G>A | XP_024303656.1:p.Glu706Lys | |
| XM_024447889.1:c.2113G>A | XP_024303657.1:p.Glu705Lys | |
| XM_024447890.1:c.2122G>A | XP_024303658.1:p.Glu708Lys | |
| XM_024447891.1:c.2044G>A | XP_024303659.1:p.Glu682Lys | |
| XM_024447892.1:c.1159G>A | XP_024303660.1:p.Glu387Lys | |
| NM_000141.5:c.2329G>A MANE Select | NP_000132.3:p.Glu777Lys | |
| NM_001144917.2:c.1981G>A | NP_001138389.1:p.Glu661Lys | |
| NM_001144918.2:c.1978G>A | NP_001138390.1:p.Glu660Lys | |
| NM_001320658.2:c.2323G>A | NP_001307587.1:p.Glu775Lys | |
| NR_073009.2:n.2765G>A | ||
| NM_001144915.2:c.2035-324G>A | NP_001138387.1:n.2035-324G>A | |
| NM_001144916.2:c.1984G>A | NP_001138388.1:p.Glu662Lys | |
| NM_001320654.2:c.1645G>A | NP_001307583.1:p.Glu549Lys |