Linked Data
ClinVar Variation Id:
819027
dbSNP Id:
rs748102589
ExAC:
11:64572252 C / G
gnomAD v2:
11-64572252-C-G
gnomAD v3:
11-64804780-C-G
gnomAD v4:
11-64804780-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64804780C>G , CM000673.2:g.64804780C>G | GRCh38 |
| NC_000011.9:g.64572252C>G , CM000673.1:g.64572252C>G | GRCh37 |
| NC_000011.8:g.64328828C>G | NCBI36 |
| NG_008929.1:g.11515G>C , LRG_509:g.11515G>C | |
| NG_033040.1:g.3462G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.1402G>C | ENSP00000366530.1:p.Glu468Gln | |
| ENST00000394374.8:c.*695G>C | ENSP00000377899.4:n.*695G>C | |
| ENST00000394376.7:c.1378G>C | ENSP00000377901.3:p.Glu460Gln | |
| ENST00000413626.2:c.1387G>C | ENSP00000411218.2:p.Glu463Gln | |
| ENST00000424912.2:c.1387G>C | ENSP00000388016.2:p.Glu463Gln | |
| ENST00000429702.6:c.1387G>C | ENSP00000402752.2:p.Glu463Gln | |
| ENST00000672079.2:c.*483G>C | ENSP00000500905.2:n.*483G>C | |
| ENST00000710881.1:c.1402G>C | ENSP00000518530.1:p.Glu468Gln | |
| ENST00000394374.7:c.1134G>C | ||
| ENST00000394376.6:c.729G>C | ||
| ENST00000478548.3:n.1880G>C | ||
| ENST00000671939.2:n.1349G>C | ||
| ENST00000671965.2:n.1769G>C | ||
| ENST00000312049.11:c.1387G>C | ENSP00000308975.6:p.Glu463Gln | |
| ENST00000315422.9:c.1387G>C | ENSP00000323747.4:p.Glu463Gln | |
| ENST00000377313.6:c.1402G>C | ENSP00000366530.1:p.Glu468Gln | |
| ENST00000440873.6:c.1387G>C | ENSP00000413944.2:p.Glu463Gln | |
| ENST00000450708.7:c.1387G>C MANE Select | ENSP00000394933.3:p.Glu463Gln | |
| ENST00000478548.2:n.1888G>C | ||
| ENST00000671939.1:n.1664G>C | ||
| ENST00000672304.1:c.1513G>C | ENSP00000500585.1:p.Glu505Gln | |
| ENST00000312049.10:c.1387G>C | ENSP00000308975.6:p.Glu463Gln | |
| ENST00000315422.8:c.1387G>C | ENSP00000323747.4:p.Glu463Gln | |
| ENST00000337652.5:c.1402G>C | ENSP00000337088.1:p.Glu468Gln | |
| ENST00000377313.5:c.1402G>C | ENSP00000366530.1:p.Glu468Gln | |
| ENST00000377316.6:c.1222G>C | ENSP00000366533.1:p.Glu408Gln | |
| ENST00000377321.5:c.1282G>C | ENSP00000366538.1:p.Glu428Gln | |
| ENST00000377326.7:c.1387G>C | ENSP00000366543.3:p.Glu463Gln | |
| ENST00000394374.6:c.1402G>C | ENSP00000377899.2:p.Glu468Gln | |
| ENST00000394376.5:c.1402G>C | ENSP00000377901.1:p.Glu468Gln | |
| ENST00000478548.1:n.936G>C | ||
| NM_000244.3:c.1402G>C , LRG_509t1:c.1402G>C | NP_000235.2:p.Glu468Gln | |
| NM_130799.2:c.1387G>C , LRG_509t2:c.1387G>C | NP_570711.1:p.Glu463Gln | |
| NM_130800.2:c.1402G>C | NP_570712.1:p.Glu468Gln | |
| NM_130801.2:c.1402G>C | NP_570713.1:p.Glu468Gln | |
| NM_130802.2:c.1402G>C | NP_570714.1:p.Glu468Gln | |
| NM_130803.2:c.1402G>C | NP_570715.1:p.Glu468Gln | |
| NM_130804.2:c.1402G>C | NP_570716.1:p.Glu468Gln | |
| XM_005274001.3:c.1387G>C | XP_005274058.1:p.Glu463Gln | |
| XM_011545040.1:c.1513G>C | XP_011543342.1:p.Glu505Gln | |
| XM_011545041.1:c.1513G>C | XP_011543343.1:p.Glu505Gln | |
| XM_011545042.1:c.1513G>C | XP_011543344.1:p.Glu505Gln | |
| XM_005274001.4:c.1387G>C | XP_005274058.1:p.Glu463Gln | |
| XM_011545041.2:c.1513G>C | XP_011543343.1:p.Glu505Gln | |
| XM_011545042.3:c.1513G>C | XP_011543344.1:p.Glu505Gln | |
| XM_017017765.1:c.1528G>C | XP_016873254.1:p.Glu510Gln | |
| XM_017017766.1:c.1528G>C | XP_016873255.1:p.Glu510Gln | |
| XM_017017767.2:c.1528G>C | XP_016873256.1:p.Glu510Gln | |
| XM_017017768.1:c.1528G>C | XP_016873257.1:p.Glu510Gln | |
| XM_017017769.1:c.1387G>C | XP_016873258.1:p.Glu463Gln | |
| XM_017017770.2:c.1387G>C | XP_016873259.1:p.Glu463Gln | |
| NM_001370251.1:c.1513G>C | NP_001357180.1:p.Glu505Gln | |
| NM_001370259.2:c.1387G>C MANE Select | NP_001357188.2:p.Glu463Gln | |
| NM_001370260.1:c.1387G>C | NP_001357189.1:p.Glu463Gln | |
| NM_001370261.1:c.1387G>C | NP_001357190.1:p.Glu463Gln | |
| NM_001370262.1:c.1282G>C | NP_001357191.1:p.Glu428Gln | |
| NM_001370263.1:c.1282G>C | NP_001357192.1:p.Glu428Gln | |
| NM_000244.4:c.1402G>C | NP_000235.3:p.Glu468Gln | |
| NM_001370251.2:c.1513G>C | NP_001357180.2:p.Glu505Gln | |
| NM_001370260.2:c.1387G>C | NP_001357189.2:p.Glu463Gln | |
| NM_001370261.2:c.1387G>C | NP_001357190.2:p.Glu463Gln | |
| NM_001370262.2:c.1282G>C | NP_001357191.2:p.Glu428Gln | |
| NM_001370263.2:c.1282G>C | NP_001357192.2:p.Glu428Gln | |
| NM_130799.3:c.1387G>C | NP_570711.2:p.Glu463Gln | |
| NM_130800.3:c.1402G>C | NP_570712.2:p.Glu468Gln | |
| NM_130801.3:c.1402G>C | NP_570713.2:p.Glu468Gln | |
| NM_130802.3:c.1402G>C | NP_570714.2:p.Glu468Gln | |
| NM_130803.3:c.1402G>C | NP_570715.2:p.Glu468Gln | |
| NM_130804.3:c.1402G>C | NP_570716.2:p.Glu468Gln |