Linked Data
dbSNP Id:
rs759432635
ExAC:
6:157502217 G / A
gnomAD v2:
6-157502217-G-A
gnomAD v4:
6-157181083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181083G>A , CM000668.2:g.157181083G>A | GRCh38 |
| NC_000006.11:g.157502217G>A , CM000668.1:g.157502217G>A | GRCh37 |
| NC_000006.10:g.157543909G>A | NCBI36 |
| NG_032093.1:g.408154G>A | |
| NG_032093.2:g.408154G>A | |
| NG_066624.1:g.410058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3460G>A | ENSP00000055163.8:p.Gly1154Ser | |
| ENST00000414678.8:c.3529G>A | ENSP00000412835.3:p.Gly1177Ser | |
| ENST00000637015.2:c.3748G>A | ENSP00000489729.2:p.Gly1250Ser | |
| ENST00000319584.11:c.1633G>A | ENSP00000313006.7:p.Gly545Ser | |
| ENST00000346085.10:c.3499G>A | ENSP00000344546.5:p.Gly1167Ser | |
| ENST00000350026.10:c.3211G>A | ENSP00000055163.7:p.Gly1071Ser | |
| ENST00000414678.7:c.1777G>A | ENSP00000412835.2:p.Gly593Ser | |
| ENST00000635849.1:c.940G>A | ENSP00000490948.1:p.Gly314Ser | |
| ENST00000635957.1:c.574G>A | ENSP00000490385.1:p.Gly192Ser | |
| ENST00000636930.2:c.3619G>A MANE Select | ENSP00000490491.2:p.Gly1207Ser | |
| ENST00000636940.1:n.1616G>A | ||
| ENST00000637015.1:c.987G>A | ||
| ENST00000637568.1:c.901G>A | ||
| ENST00000637741.1:n.285G>A | ||
| ENST00000637810.1:c.961G>A | ENSP00000489636.1:p.Gly321Ser | |
| ENST00000637904.1:c.1120G>A | ENSP00000490550.1:p.Gly374Ser | |
| ENST00000647938.1:c.3250G>A | ENSP00000498155.1:p.Gly1084Ser | |
| ENST00000319584.10:c.1636G>A | ENSP00000313006.6:p.Gly546Ser | |
| ENST00000346085.9:c.3250G>A | ENSP00000344546.4:p.Gly1084Ser | |
| ENST00000350026.9:c.3211G>A | ENSP00000055163.7:p.Gly1071Ser | |
| ENST00000400790.3:c.412G>A | ENSP00000383596.3:p.Gly138Ser | |
| ENST00000414678.6:c.1777G>A | ENSP00000412835.2:p.Gly593Ser | |
| ENST00000478761.3:c.821G>A | ||
| NM_017519.2:c.3211G>A | NP_059989.2:p.Gly1071Ser | |
| NM_020732.3:c.3250G>A | NP_065783.3:p.Gly1084Ser | |
| XM_005267069.3:c.3370G>A | XP_005267126.2:p.Gly1124Ser | |
| XM_011535984.1:c.2449G>A | XP_011534286.1:p.Gly817Ser | |
| XM_011535985.1:c.2269G>A | XP_011534287.1:p.Gly757Ser | |
| XM_011535986.1:c.2029G>A | XP_011534288.1:p.Gly677Ser | |
| XM_011535987.1:c.1648G>A | XP_011534289.1:p.Gly550Ser | |
| XM_011535988.1:c.511G>A | XP_011534290.1:p.Gly171Ser | |
| NM_001346813.1:c.3370G>A | NP_001333742.1:p.Gly1124Ser | |
| NM_001363725.1:c.1120G>A | NP_001350654.1:p.Gly374Ser | |
| XM_011535984.2:c.3580G>A | XP_011534286.2:p.Gly1194Ser | |
| XM_011535988.3:c.511G>A | XP_011534290.1:p.Gly171Ser | |
| XM_017011103.2:c.3481G>A | XP_016866592.1:p.Gly1161Ser | |
| XM_017011104.1:c.3451G>A | XP_016866593.1:p.Gly1151Ser | |
| XM_017011105.2:c.3421G>A | XP_016866594.1:p.Gly1141Ser | |
| XM_017011106.2:c.3292G>A | XP_016866595.1:p.Gly1098Ser | |
| XM_017011107.2:c.3271G>A | XP_016866596.1:p.Gly1091Ser | |
| XR_002956289.1:n.3663G>A | ||
| NM_001363725.2:c.1120G>A | NP_001350654.1:p.Gly374Ser | |
| NM_001371656.1:c.3499G>A | NP_001358585.1:p.Gly1167Ser | |
| NM_001374820.1:c.3499G>A | NP_001361749.1:p.Gly1167Ser | |
| NM_001374828.1:c.3619G>A MANE Select | NP_001361757.1:p.Gly1207Ser | |
| NM_017519.3:c.3460G>A | NP_059989.3:p.Gly1154Ser |