Linked Data
ClinVar Variation Id:
189343
dbSNP Id:
rs770689762
ExAC:
22:17663586 C / T
gnomAD v2:
22-17663586-C-T
gnomAD v3:
22-17182696-C-T
gnomAD v4:
22-17182696-C-T
PubMed:
PMID:25075847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17182696C>T , CM000684.2:g.17182696C>T | GRCh38 |
| NC_000022.10:g.17663586C>T , CM000684.1:g.17663586C>T | GRCh37 |
| NC_000022.9:g.16043586C>T | NCBI36 |
| NG_033943.1:g.44159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.424G>A | ENSP00000332871.4:p.Gly142Ser | |
| ENST00000449907.8:c.1021G>A | ENSP00000406443.2:p.Gly341Ser | |
| ENST00000469063.2:n.1035G>A | ||
| ENST00000543038.2:c.1147G>A | ENSP00000442482.2:p.Gly383Ser | |
| ENST00000610390.5:c.787G>A | ENSP00000483418.1:p.Gly263Ser | |
| ENST00000648061.2:c.*123G>A | ENSP00000496894.1:n.*123G>A | |
| ENST00000649310.2:c.1147G>A | ENSP00000496839.2:p.Gly383Ser | |
| ENST00000649746.2:c.1147G>A | ENSP00000497913.2:p.Gly383Ser | |
| ENST00000649915.2:c.*2269G>A | ENSP00000497681.2:n.*2269G>A | |
| ENST00000696196.1:c.1147G>A | ENSP00000512479.1:p.Gly383Ser | |
| ENST00000696197.1:c.1147G>A | ENSP00000512480.1:p.Gly383Ser | |
| ENST00000696218.1:n.259G>A | ||
| ENST00000696220.1:c.373G>A | ENSP00000512486.1:p.Gly125Ser | |
| ENST00000696221.1:c.394G>A | ENSP00000512487.1:p.Gly132Ser | |
| ENST00000696222.1:c.394G>A | ENSP00000512488.1:p.Gly132Ser | |
| ENST00000696223.1:c.394G>A | ENSP00000512489.1:p.Gly132Ser | |
| ENST00000696224.1:c.541G>A | ENSP00000512490.1:p.Gly181Ser | |
| ENST00000696225.1:c.1147G>A | ENSP00000512491.1:p.Gly383Ser | |
| ENST00000399837.8:c.1147G>A MANE Select | ENSP00000382731.2:p.Gly383Ser | |
| ENST00000449907.7:c.1021G>A | ENSP00000406443.2:p.Gly341Ser | |
| ENST00000648061.1:c.*123G>A | ENSP00000496894.1:n.*123G>A | |
| ENST00000648668.1:n.585G>A | ||
| ENST00000649540.1:c.1021G>A | ENSP00000497469.1:p.Gly341Ser | |
| ENST00000649915.1:c.2660G>A | ||
| ENST00000262607.3:c.1147G>A | ENSP00000262607.2:p.Gly383Ser | |
| ENST00000330232.8:c.424G>A | ENSP00000332871.4:p.Gly142Ser | |
| ENST00000399837.6:c.1147G>A | ENSP00000382731.2:p.Gly383Ser | |
| ENST00000399839.5:c.1147G>A | ENSP00000382733.1:p.Gly383Ser | |
| ENST00000449907.6:c.1021G>A | ENSP00000406443.2:p.Gly341Ser | |
| ENST00000469063.1:n.455G>A | ||
| ENST00000610390.4:c.787G>A | ENSP00000483418.1:p.Gly263Ser | |
| NM_001282225.1:c.1147G>A | NP_001269154.1:p.Gly383Ser | |
| NM_001282226.1:c.1147G>A | NP_001269155.1:p.Gly383Ser | |
| NM_001282227.1:c.1021G>A | NP_001269156.1:p.Gly341Ser | |
| NM_001282228.1:c.1021G>A | NP_001269157.1:p.Gly341Ser | |
| NM_001282229.1:c.787G>A | NP_001269158.1:p.Gly263Ser | |
| NM_177405.2:c.424G>A | NP_803124.1:p.Gly142Ser | |
| XM_006724080.2:c.463G>A | XP_006724143.1:p.Gly155Ser | |
| XM_011546133.1:c.1147G>A | XP_011544435.1:p.Gly383Ser | |
| NM_001282225.2:c.1147G>A MANE Select | NP_001269154.1:p.Gly383Ser | |
| XM_006724080.3:c.463G>A | XP_006724143.1:p.Gly155Ser | |
| XM_011546133.2:c.1147G>A | XP_011544435.1:p.Gly383Ser | |
| NM_001282226.2:c.1147G>A | NP_001269155.1:p.Gly383Ser | |
| NM_001282227.2:c.1021G>A | NP_001269156.1:p.Gly341Ser | |
| NM_001282228.2:c.1021G>A | NP_001269157.1:p.Gly341Ser | |
| NM_177405.3:c.424G>A | NP_803124.1:p.Gly142Ser | |
| NM_001282229.2:c.787G>A | NP_001269158.1:p.Gly263Ser |