Linked Data
dbSNP Id:
rs1425976342
gnomAD v2:
2-32352034-A-G
gnomAD v3:
2-32126965-A-G
gnomAD v4:
2-32126965-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32126965A>G , CM000664.2:g.32126965A>G | GRCh38 |
| NC_000002.11:g.32352034A>G , CM000664.1:g.32352034A>G | GRCh37 |
| NC_000002.10:g.32205538A>G | NCBI36 |
| NG_008730.1:g.68355A>G , LRG_714:g.68355A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*776A>G | ENSP00000515816.1:n.*776A>G | |
| ENST00000315285.9:c.1116A>G MANE Select | ENSP00000320885.3:p.Arg372= | |
| ENST00000621856.2:c.1113A>G | ENSP00000482496.2:p.Arg371= | |
| ENST00000642281.1:c.983-9598A>G | ||
| ENST00000642455.1:c.1017A>G | ENSP00000493827.1:p.Arg339= | |
| ENST00000642751.1:c.890A>G | ||
| ENST00000642999.1:c.858A>G | ENSP00000496589.1:p.Arg286= | |
| ENST00000643327.1:c.275A>G | ||
| ENST00000643334.1:c.696A>G | ||
| ENST00000644408.1:c.992A>G | ||
| ENST00000644954.1:c.762A>G | ENSP00000494312.1:p.Arg254= | |
| ENST00000645159.1:n.468A>G | ||
| ENST00000645550.1:n.329A>G | ||
| ENST00000645671.1:c.566A>G | ||
| ENST00000645730.1:c.463A>G | ||
| ENST00000646082.1:c.762A>G | ||
| ENST00000646571.1:c.1020A>G | ENSP00000495015.1:p.Arg340= | |
| ENST00000647007.1:n.808A>G | ||
| ENST00000647133.1:c.674-1443A>G | ||
| ENST00000315285.7:c.1116A>G | ENSP00000320885.3:p.Arg372= | |
| ENST00000345662.5:c.1020A>G | ENSP00000340817.1:p.Arg340= | |
| ENST00000615843.4:c.1116A>G | ENSP00000480893.1:p.Arg372= | |
| ENST00000621856.1:c.858A>G | ENSP00000482496.1:p.Arg286= | |
| NM_014946.3:c.1116A>G , LRG_714t1:c.1116A>G | NP_055761.2:p.Arg372= | |
| NM_199436.1:c.1020A>G | NP_955468.1:p.Arg340= | |
| XM_005264516.3:c.1113A>G | XP_005264573.1:p.Arg371= | |
| XM_011533067.1:c.1116A>G | XP_011531369.1:p.Arg372= | |
| NM_001363823.1:c.1113A>G | NP_001350752.1:p.Arg371= | |
| NM_001363875.1:c.1017A>G | NP_001350804.1:p.Arg339= | |
| XM_005264516.5:c.1113A>G | XP_005264573.1:p.Arg371= | |
| XM_011533067.2:c.1116A>G | XP_011531369.1:p.Arg372= | |
| XM_017004778.2:c.1020A>G | XP_016860267.1:p.Arg340= | |
| NM_001363823.2:c.1113A>G | NP_001350752.1:p.Arg371= | |
| NM_001363875.2:c.1017A>G | NP_001350804.1:p.Arg339= | |
| NM_001377959.1:c.1020A>G | NP_001364888.1:p.Arg340= | |
| NM_014946.4:c.1116A>G MANE Select | NP_055761.2:p.Arg372= | |
| NM_199436.2:c.1020A>G | NP_955468.1:p.Arg340= |