Linked Data
dbSNP Id:
rs944809709
gnomAD v2:
6-157522509-G-A
gnomAD v3:
6-157201375-G-A
gnomAD v4:
6-157201375-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201375G>A , CM000668.2:g.157201375G>A | GRCh38 |
| NC_000006.11:g.157522509G>A , CM000668.1:g.157522509G>A | GRCh37 |
| NC_000006.10:g.157564201G>A | NCBI36 |
| NG_032093.1:g.428446G>A | |
| NG_032093.2:g.428446G>A | |
| NG_066624.1:g.430350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4991G>A | ENSP00000055163.8:p.Gly1664Glu | |
| ENST00000414678.8:c.5060G>A | ENSP00000412835.3:p.Gly1687Glu | |
| ENST00000637015.2:c.5279G>A | ENSP00000489729.2:p.Gly1760Glu | |
| ENST00000346085.10:c.5030G>A | ENSP00000344546.5:p.Gly1677Glu | |
| ENST00000350026.10:c.4742G>A | ENSP00000055163.7:p.Gly1581Glu | |
| ENST00000414678.7:c.3308G>A | ENSP00000412835.2:p.Gly1103Glu | |
| ENST00000635849.1:c.2471G>A | ENSP00000490948.1:p.Gly824Glu | |
| ENST00000635957.1:c.2102G>A | ENSP00000490385.1:p.Gly701Glu | |
| ENST00000636227.1:n.3613G>A | ||
| ENST00000636254.1:n.1070G>A | ||
| ENST00000636930.2:c.5150G>A MANE Select | ENSP00000490491.2:p.Gly1717Glu | |
| ENST00000636940.1:n.3147G>A | ||
| ENST00000637015.1:c.2518G>A | ||
| ENST00000637568.1:c.2432G>A | ||
| ENST00000637741.1:n.1816G>A | ||
| ENST00000637810.1:c.2492G>A | ENSP00000489636.1:p.Gly831Glu | |
| ENST00000637904.1:c.2651G>A | ENSP00000490550.1:p.Gly884Glu | |
| ENST00000647938.1:c.4781G>A | ENSP00000498155.1:p.Gly1594Glu | |
| ENST00000346085.9:c.4781G>A | ENSP00000344546.4:p.Gly1594Glu | |
| ENST00000350026.9:c.4742G>A | ENSP00000055163.7:p.Gly1581Glu | |
| ENST00000414678.6:c.3308G>A | ENSP00000412835.2:p.Gly1103Glu | |
| NM_017519.2:c.4742G>A | NP_059989.2:p.Gly1581Glu | |
| NM_020732.3:c.4781G>A | NP_065783.3:p.Gly1594Glu | |
| XM_005267069.3:c.4901G>A | XP_005267126.2:p.Gly1634Glu | |
| XM_011535984.1:c.3980G>A | XP_011534286.1:p.Gly1327Glu | |
| XM_011535985.1:c.3800G>A | XP_011534287.1:p.Gly1267Glu | |
| XM_011535986.1:c.3560G>A | XP_011534288.1:p.Gly1187Glu | |
| XM_011535987.1:c.3179G>A | XP_011534289.1:p.Gly1060Glu | |
| XM_011535988.1:c.2042G>A | XP_011534290.1:p.Gly681Glu | |
| NM_001346813.1:c.4901G>A | NP_001333742.1:p.Gly1634Glu | |
| NM_001363725.1:c.2651G>A | NP_001350654.1:p.Gly884Glu | |
| XM_011535984.2:c.5111G>A | XP_011534286.2:p.Gly1704Glu | |
| XM_011535988.3:c.2042G>A | XP_011534290.1:p.Gly681Glu | |
| XM_017011103.2:c.5012G>A | XP_016866592.1:p.Gly1671Glu | |
| XM_017011104.1:c.4982G>A | XP_016866593.1:p.Gly1661Glu | |
| XM_017011105.2:c.4952G>A | XP_016866594.1:p.Gly1651Glu | |
| XM_017011106.2:c.4823G>A | XP_016866595.1:p.Gly1608Glu | |
| XM_017011107.2:c.4802G>A | XP_016866596.1:p.Gly1601Glu | |
| XR_002956289.1:n.5097G>A | ||
| NM_001363725.2:c.2651G>A | NP_001350654.1:p.Gly884Glu | |
| NM_001371656.1:c.5030G>A | NP_001358585.1:p.Gly1677Glu | |
| NM_001374820.1:c.5030G>A | NP_001361749.1:p.Gly1677Glu | |
| NM_001374828.1:c.5150G>A MANE Select | NP_001361757.1:p.Gly1717Glu | |
| NM_017519.3:c.4991G>A | NP_059989.3:p.Gly1664Glu |