Linked Data
dbSNP Id:
rs752913095
ExAC:
6:157469825 T / C
gnomAD v3:
6-157148691-T-C
gnomAD v4:
6-157148691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148691T>C , CM000668.2:g.157148691T>C | GRCh38 |
| NC_000006.11:g.157469825T>C , CM000668.1:g.157469825T>C | GRCh37 |
| NC_000006.10:g.157511517T>C | NCBI36 |
| NG_032093.1:g.375762T>C | |
| NG_032093.2:g.375762T>C | |
| NG_066624.1:g.377666T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2829T>C | ENSP00000055163.8:p.Gly943= | |
| ENST00000414678.8:c.2739T>C | ENSP00000412835.3:p.Gly913= | |
| ENST00000637015.2:c.2829T>C | ENSP00000489729.2:p.Gly943= | |
| ENST00000319584.11:c.843T>C | ENSP00000313006.7:p.Gly281= | |
| ENST00000346085.10:c.2868T>C | ENSP00000344546.5:p.Gly956= | |
| ENST00000350026.10:c.2580T>C | ENSP00000055163.7:p.Gly860= | |
| ENST00000414678.7:c.987T>C | ENSP00000412835.2:p.Gly329= | |
| ENST00000452544.2:n.730T>C | ||
| ENST00000635849.1:c.150T>C | ENSP00000490948.1:p.Gly50= | |
| ENST00000636930.2:c.2829T>C MANE Select | ENSP00000490491.2:p.Gly943= | |
| ENST00000637015.1:c.68T>C | ||
| ENST00000637810.1:c.330T>C | ENSP00000489636.1:p.Gly110= | |
| ENST00000637904.1:c.330T>C | ENSP00000490550.1:p.Gly110= | |
| ENST00000647938.1:c.2619T>C | ENSP00000498155.1:p.Gly873= | |
| ENST00000674190.1:n.1578T>C | ||
| ENST00000319584.10:c.846T>C | ENSP00000313006.6:p.Gly282= | |
| ENST00000346085.9:c.2619T>C | ENSP00000344546.4:p.Gly873= | |
| ENST00000350026.9:c.2580T>C | ENSP00000055163.7:p.Gly860= | |
| ENST00000414678.6:c.987T>C | ENSP00000412835.2:p.Gly329= | |
| ENST00000452544.1:n.676T>C | ||
| NM_017519.2:c.2580T>C | NP_059989.2:p.Gly860= | |
| NM_020732.3:c.2619T>C | NP_065783.3:p.Gly873= | |
| XM_005267069.3:c.2580T>C | XP_005267126.2:p.Gly860= | |
| XM_011535984.1:c.1530T>C | XP_011534286.1:p.Gly510= | |
| XM_011535985.1:c.1350T>C | XP_011534287.1:p.Gly450= | |
| XM_011535986.1:c.1110T>C | XP_011534288.1:p.Gly370= | |
| XM_011535987.1:c.729T>C | XP_011534289.1:p.Gly243= | |
| XM_011535988.1:c.-20+15484T>C | XP_011534290.1:n.-20+15484T>C | |
| NM_001346813.1:c.2580T>C | NP_001333742.1:p.Gly860= | |
| NM_001363725.1:c.330T>C | NP_001350654.1:p.Gly110= | |
| XM_011535984.2:c.2661T>C | XP_011534286.2:p.Gly887= | |
| XM_011535988.3:c.-20+15484T>C | XP_011534290.1:n.-20+15484T>C | |
| XM_017011103.2:c.2661T>C | XP_016866592.1:p.Gly887= | |
| XM_017011104.1:c.2661T>C | XP_016866593.1:p.Gly887= | |
| XM_017011105.2:c.2661T>C | XP_016866594.1:p.Gly887= | |
| XM_017011106.2:c.2661T>C | XP_016866595.1:p.Gly887= | |
| XM_017011107.2:c.2481T>C | XP_016866596.1:p.Gly827= | |
| XR_002956289.1:n.2744T>C | ||
| NM_001363725.2:c.330T>C | NP_001350654.1:p.Gly110= | |
| NM_001371656.1:c.2868T>C | NP_001358585.1:p.Gly956= | |
| NM_001374820.1:c.2868T>C | NP_001361749.1:p.Gly956= | |
| NM_001374828.1:c.2829T>C MANE Select | NP_001361757.1:p.Gly943= | |
| NM_017519.3:c.2829T>C | NP_059989.3:p.Gly943= |