Linked Data
dbSNP Id:
rs538689102
ExAC:
6:157222640 A / G
gnomAD v2:
6-157222640-A-G
gnomAD v3:
6-156901506-A-G
gnomAD v4:
6-156901506-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156901506A>G , CM000668.2:g.156901506A>G | GRCh38 |
| NC_000006.11:g.157222640A>G , CM000668.1:g.157222640A>G | GRCh37 |
| NC_000006.10:g.157264332A>G | NCBI36 |
| NG_032093.1:g.128577A>G | |
| NG_032093.2:g.128577A>G | |
| NG_066624.1:g.130481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2117A>G | ENSP00000055163.8:p.Gln706Arg | |
| ENST00000414678.8:c.2117A>G | ENSP00000412835.3:p.Gln706Arg | |
| ENST00000637015.2:c.2117A>G | ENSP00000489729.2:p.Gln706Arg | |
| ENST00000319584.11:c.131A>G | ENSP00000313006.7:p.Gln44Arg | |
| ENST00000346085.10:c.2156A>G | ENSP00000344546.5:p.Gln719Arg | |
| ENST00000350026.10:c.1868A>G | ENSP00000055163.7:p.Gln623Arg | |
| ENST00000414678.7:c.365A>G | ENSP00000412835.2:p.Gln122Arg | |
| ENST00000636205.1:n.180A>G | ||
| ENST00000636748.1:c.398A>G | ENSP00000489917.1:p.Gln133Arg | |
| ENST00000636930.2:c.2117A>G MANE Select | ENSP00000490491.2:p.Gln706Arg | |
| ENST00000637532.1:c.143A>G | ENSP00000490420.1:p.Gln48Arg | |
| ENST00000638000.1:c.334A>G | ||
| ENST00000647938.1:c.1907A>G | ENSP00000498155.1:p.Gln636Arg | |
| ENST00000674190.1:n.824A>G | ||
| ENST00000674298.1:c.1857A>G | ||
| ENST00000319584.10:c.134A>G | ENSP00000313006.6:p.Gln45Arg | |
| ENST00000346085.9:c.1907A>G | ENSP00000344546.4:p.Gln636Arg | |
| ENST00000350026.9:c.1868A>G | ENSP00000055163.7:p.Gln623Arg | |
| ENST00000414678.6:c.365A>G | ENSP00000412835.2:p.Gln122Arg | |
| NM_017519.2:c.1868A>G | NP_059989.2:p.Gln623Arg | |
| NM_020732.3:c.1907A>G | NP_065783.3:p.Gln636Arg | |
| XM_005267069.3:c.1868A>G | XP_005267126.2:p.Gln623Arg | |
| XM_011535984.1:c.776A>G | XP_011534286.1:p.Gln259Arg | |
| XM_011535985.1:c.776A>G | XP_011534287.1:p.Gln259Arg | |
| XM_011535986.1:c.356A>G | XP_011534288.1:p.Gln119Arg | |
| NM_001346813.1:c.1868A>G | NP_001333742.1:p.Gln623Arg | |
| XM_011535984.2:c.1907A>G | XP_011534286.2:p.Gln636Arg | |
| XM_017011103.2:c.1907A>G | XP_016866592.1:p.Gln636Arg | |
| XM_017011104.1:c.1907A>G | XP_016866593.1:p.Gln636Arg | |
| XM_017011105.2:c.1907A>G | XP_016866594.1:p.Gln636Arg | |
| XM_017011106.2:c.1907A>G | XP_016866595.1:p.Gln636Arg | |
| XM_017011107.2:c.1907A>G | XP_016866596.1:p.Gln636Arg | |
| XR_002956289.1:n.1990A>G | ||
| NM_001371656.1:c.2156A>G | NP_001358585.1:p.Gln719Arg | |
| NM_001374820.1:c.2156A>G | NP_001361749.1:p.Gln719Arg | |
| NM_001374828.1:c.2117A>G MANE Select | NP_001361757.1:p.Gln706Arg | |
| NM_017519.3:c.2117A>G | NP_059989.3:p.Gln706Arg |