Linked Data
ClinVar Variation Id:
17554
ClinVar RCV Id:
RCV000019109
dbSNP Id:
rs121912796
PubMed:
PMID:18653847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824464C>T , CM000664.2:g.174824464C>T | GRCh38 |
| NC_000002.11:g.175689192C>T , CM000664.1:g.175689192C>T | GRCh37 |
| NC_000002.10:g.175397438C>T | NCBI36 |
| NG_012642.1:g.185979G>A | |
| NG_012642.2:g.185979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.307G>A | ENSP00000295497.7:p.Gly103Ser | |
| ENST00000444394.7:c.307G>A | ENSP00000411911.2:p.Gly103Ser | |
| ENST00000295497.12:c.307G>A | ENSP00000295497.7:p.Gly103Ser | |
| ENST00000409089.7:c.7G>A | ENSP00000386322.3:p.Gly3Ser | |
| ENST00000409900.9:c.682G>A MANE Select | ENSP00000386741.4:p.Gly228Ser | |
| ENST00000413882.6:c.136G>A | ENSP00000410496.2:p.Gly46Ser | |
| ENST00000425395.6:c.*129G>A | ENSP00000405270.2:n.*129G>A | |
| ENST00000443238.6:c.160G>A | ENSP00000409798.2:p.Gly54Ser | |
| ENST00000444394.6:c.307G>A | ENSP00000411911.2:p.Gly103Ser | |
| ENST00000444573.2:c.526G>A | ENSP00000392603.2:p.Gly176Ser | |
| ENST00000488080.6:n.325G>A | ||
| ENST00000650731.1:c.7G>A | ENSP00000499146.1:p.Gly3Ser | |
| ENST00000650938.1:c.206G>A | ||
| ENST00000651246.1:c.274G>A | ENSP00000498484.1:p.Gly92Ser | |
| ENST00000651373.1:c.196G>A | ENSP00000499174.1:p.Gly66Ser | |
| ENST00000651501.1:c.*129G>A | ENSP00000498894.1:n.*129G>A | |
| ENST00000651717.1:c.253-11982G>A | ENSP00000499124.1:n.253-11982G>A | |
| ENST00000652036.1:c.307G>A | ENSP00000499139.1:p.Gly103Ser | |
| ENST00000652154.1:n.580G>A | ||
| ENST00000295497.11:c.307G>A | ENSP00000295497.7:p.Gly103Ser | |
| ENST00000409089.6:c.7G>A | ENSP00000386322.2:p.Gly3Ser | |
| ENST00000409156.7:c.604G>A | ENSP00000386470.3:p.Gly202Ser | |
| ENST00000409597.5:c.130G>A | ENSP00000386469.1:p.Gly44Ser | |
| ENST00000409900.7:c.682G>A | ENSP00000386741.3:p.Gly228Ser | |
| ENST00000413882.5:c.136G>A | ENSP00000410496.1:p.Gly46Ser | |
| ENST00000425395.5:c.*233G>A | ENSP00000405270.1:n.*233G>A | |
| ENST00000443238.5:c.160G>A | ENSP00000409798.1:p.Gly54Ser | |
| ENST00000444394.5:c.7G>A | ENSP00000411911.1:p.Gly3Ser | |
| ENST00000444573.1:c.307G>A | ENSP00000392603.1:p.Gly103Ser | |
| ENST00000485882.1:n.141G>A | ||
| ENST00000488080.5:n.533G>A | ||
| NM_001025201.3:c.604G>A | NP_001020372.2:p.Gly202Ser | |
| NM_001206602.1:c.307G>A | NP_001193531.1:p.Gly103Ser | |
| NM_001822.5:c.682G>A | NP_001813.1:p.Gly228Ser | |
| NR_038133.1:n.548G>A | ||
| NM_001025201.4:c.604G>A | NP_001020372.2:p.Gly202Ser | |
| NM_001206602.2:c.307G>A | NP_001193531.1:p.Gly103Ser | |
| NM_001371513.1:c.682G>A | NP_001358442.1:p.Gly228Ser | |
| NM_001371514.1:c.733G>A | NP_001358443.1:p.Gly245Ser | |
| NM_001822.7:c.682G>A MANE Select | NP_001813.1:p.Gly228Ser | |
| NR_038133.2:n.550G>A |