Linked Data
dbSNP Id:
rs760280267
ExAC:
6:157469788 G / A
gnomAD v2:
6-157469788-G-A
gnomAD v4:
6-157148654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148654G>A , CM000668.2:g.157148654G>A | GRCh38 |
| NC_000006.11:g.157469788G>A , CM000668.1:g.157469788G>A | GRCh37 |
| NC_000006.10:g.157511480G>A | NCBI36 |
| NG_032093.1:g.375725G>A | |
| NG_032093.2:g.375725G>A | |
| NG_066624.1:g.377629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2792G>A | ENSP00000055163.8:p.Gly931Glu | |
| ENST00000414678.8:c.2702G>A | ENSP00000412835.3:p.Gly901Glu | |
| ENST00000637015.2:c.2792G>A | ENSP00000489729.2:p.Gly931Glu | |
| ENST00000319584.11:c.806G>A | ENSP00000313006.7:p.Gly269Glu | |
| ENST00000346085.10:c.2831G>A | ENSP00000344546.5:p.Gly944Glu | |
| ENST00000350026.10:c.2543G>A | ENSP00000055163.7:p.Gly848Glu | |
| ENST00000414678.7:c.950G>A | ENSP00000412835.2:p.Gly317Glu | |
| ENST00000452544.2:n.693G>A | ||
| ENST00000635849.1:c.113G>A | ENSP00000490948.1:p.Gly38Glu | |
| ENST00000636930.2:c.2792G>A MANE Select | ENSP00000490491.2:p.Gly931Glu | |
| ENST00000637015.1:c.31G>A | ||
| ENST00000637810.1:c.293G>A | ENSP00000489636.1:p.Gly98Glu | |
| ENST00000637904.1:c.293G>A | ENSP00000490550.1:p.Gly98Glu | |
| ENST00000647938.1:c.2582G>A | ENSP00000498155.1:p.Gly861Glu | |
| ENST00000674190.1:n.1541G>A | ||
| ENST00000319584.10:c.809G>A | ENSP00000313006.6:p.Gly270Glu | |
| ENST00000346085.9:c.2582G>A | ENSP00000344546.4:p.Gly861Glu | |
| ENST00000350026.9:c.2543G>A | ENSP00000055163.7:p.Gly848Glu | |
| ENST00000414678.6:c.950G>A | ENSP00000412835.2:p.Gly317Glu | |
| ENST00000452544.1:n.639G>A | ||
| NM_017519.2:c.2543G>A | NP_059989.2:p.Gly848Glu | |
| NM_020732.3:c.2582G>A | NP_065783.3:p.Gly861Glu | |
| XM_005267069.3:c.2543G>A | XP_005267126.2:p.Gly848Glu | |
| XM_011535984.1:c.1493G>A | XP_011534286.1:p.Gly498Glu | |
| XM_011535985.1:c.1313G>A | XP_011534287.1:p.Gly438Glu | |
| XM_011535986.1:c.1073G>A | XP_011534288.1:p.Gly358Glu | |
| XM_011535987.1:c.692G>A | XP_011534289.1:p.Gly231Glu | |
| XM_011535988.1:c.-20+15447G>A | XP_011534290.1:n.-20+15447G>A | |
| NM_001346813.1:c.2543G>A | NP_001333742.1:p.Gly848Glu | |
| NM_001363725.1:c.293G>A | NP_001350654.1:p.Gly98Glu | |
| XM_011535984.2:c.2624G>A | XP_011534286.2:p.Gly875Glu | |
| XM_011535988.3:c.-20+15447G>A | XP_011534290.1:n.-20+15447G>A | |
| XM_017011103.2:c.2624G>A | XP_016866592.1:p.Gly875Glu | |
| XM_017011104.1:c.2624G>A | XP_016866593.1:p.Gly875Glu | |
| XM_017011105.2:c.2624G>A | XP_016866594.1:p.Gly875Glu | |
| XM_017011106.2:c.2624G>A | XP_016866595.1:p.Gly875Glu | |
| XM_017011107.2:c.2444G>A | XP_016866596.1:p.Gly815Glu | |
| XR_002956289.1:n.2707G>A | ||
| NM_001363725.2:c.293G>A | NP_001350654.1:p.Gly98Glu | |
| NM_001371656.1:c.2831G>A | NP_001358585.1:p.Gly944Glu | |
| NM_001374820.1:c.2831G>A | NP_001361749.1:p.Gly944Glu | |
| NM_001374828.1:c.2792G>A MANE Select | NP_001361757.1:p.Gly931Glu | |
| NM_017519.3:c.2792G>A | NP_059989.3:p.Gly931Glu |