Linked Data
ClinVar Variation Id:
1713193
ClinVar RCV Id:
RCV002302852
dbSNP Id:
rs1464031481
gnomAD v2:
6-157522097-A-G
gnomAD v3:
6-157200963-A-G
gnomAD v4:
6-157200963-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157200963A>G , CM000668.2:g.157200963A>G | GRCh38 |
| NC_000006.11:g.157522097A>G , CM000668.1:g.157522097A>G | GRCh37 |
| NC_000006.10:g.157563789A>G | NCBI36 |
| NG_032093.1:g.428034A>G | |
| NG_032093.2:g.428034A>G | |
| NG_066624.1:g.429938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4579A>G | ENSP00000055163.8:p.Ser1527Gly | |
| ENST00000414678.8:c.4648A>G | ENSP00000412835.3:p.Ser1550Gly | |
| ENST00000637015.2:c.4867A>G | ENSP00000489729.2:p.Ser1623Gly | |
| ENST00000346085.10:c.4618A>G | ENSP00000344546.5:p.Ser1540Gly | |
| ENST00000350026.10:c.4330A>G | ENSP00000055163.7:p.Ser1444Gly | |
| ENST00000414678.7:c.2896A>G | ENSP00000412835.2:p.Ser966Gly | |
| ENST00000635849.1:c.2059A>G | ENSP00000490948.1:p.Ser687Gly | |
| ENST00000635957.1:c.1690A>G | ENSP00000490385.1:p.Ser564Gly | |
| ENST00000636227.1:n.3201A>G | ||
| ENST00000636254.1:n.658A>G | ||
| ENST00000636930.2:c.4738A>G MANE Select | ENSP00000490491.2:p.Ser1580Gly | |
| ENST00000636940.1:n.2735A>G | ||
| ENST00000637015.1:c.2106A>G | ||
| ENST00000637568.1:c.2020A>G | ||
| ENST00000637741.1:n.1404A>G | ||
| ENST00000637810.1:c.2080A>G | ENSP00000489636.1:p.Ser694Gly | |
| ENST00000637904.1:c.2239A>G | ENSP00000490550.1:p.Ser747Gly | |
| ENST00000647938.1:c.4369A>G | ENSP00000498155.1:p.Ser1457Gly | |
| ENST00000346085.9:c.4369A>G | ENSP00000344546.4:p.Ser1457Gly | |
| ENST00000350026.9:c.4330A>G | ENSP00000055163.7:p.Ser1444Gly | |
| ENST00000414678.6:c.2896A>G | ENSP00000412835.2:p.Ser966Gly | |
| NM_017519.2:c.4330A>G | NP_059989.2:p.Ser1444Gly | |
| NM_020732.3:c.4369A>G | NP_065783.3:p.Ser1457Gly | |
| XM_005267069.3:c.4489A>G | XP_005267126.2:p.Ser1497Gly | |
| XM_011535984.1:c.3568A>G | XP_011534286.1:p.Ser1190Gly | |
| XM_011535985.1:c.3388A>G | XP_011534287.1:p.Ser1130Gly | |
| XM_011535986.1:c.3148A>G | XP_011534288.1:p.Ser1050Gly | |
| XM_011535987.1:c.2767A>G | XP_011534289.1:p.Ser923Gly | |
| XM_011535988.1:c.1630A>G | XP_011534290.1:p.Ser544Gly | |
| NM_001346813.1:c.4489A>G | NP_001333742.1:p.Ser1497Gly | |
| NM_001363725.1:c.2239A>G | NP_001350654.1:p.Ser747Gly | |
| XM_011535984.2:c.4699A>G | XP_011534286.2:p.Ser1567Gly | |
| XM_011535988.3:c.1630A>G | XP_011534290.1:p.Ser544Gly | |
| XM_017011103.2:c.4600A>G | XP_016866592.1:p.Ser1534Gly | |
| XM_017011104.1:c.4570A>G | XP_016866593.1:p.Ser1524Gly | |
| XM_017011105.2:c.4540A>G | XP_016866594.1:p.Ser1514Gly | |
| XM_017011106.2:c.4411A>G | XP_016866595.1:p.Ser1471Gly | |
| XM_017011107.2:c.4390A>G | XP_016866596.1:p.Ser1464Gly | |
| XR_002956289.1:n.4685A>G | ||
| NM_001363725.2:c.2239A>G | NP_001350654.1:p.Ser747Gly | |
| NM_001371656.1:c.4618A>G | NP_001358585.1:p.Ser1540Gly | |
| NM_001374820.1:c.4618A>G | NP_001361749.1:p.Ser1540Gly | |
| NM_001374828.1:c.4738A>G MANE Select | NP_001361757.1:p.Ser1580Gly | |
| NM_017519.3:c.4579A>G | NP_059989.3:p.Ser1527Gly |