Linked Data
ClinVar Variation Id:
420337
dbSNP Id:
rs45511697
ExAC:
22:17669238 C / T
gnomAD v2:
22-17669238-C-T
gnomAD v3:
22-17188348-C-T
gnomAD v4:
22-17188348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17188348C>T , CM000684.2:g.17188348C>T | GRCh38 |
| NC_000022.10:g.17669238C>T , CM000684.1:g.17669238C>T | GRCh37 |
| NC_000022.9:g.16049238C>T | NCBI36 |
| NG_033943.1:g.38507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.349G>A | ENSP00000332871.4:p.Gly117Arg | |
| ENST00000449907.8:c.946G>A | ENSP00000406443.2:p.Gly316Arg | |
| ENST00000469063.2:n.960G>A | ||
| ENST00000543038.2:c.1072G>A | ENSP00000442482.2:p.Gly358Arg | |
| ENST00000610390.5:c.712G>A | ENSP00000483418.1:p.Gly238Arg | |
| ENST00000648061.2:c.*48G>A | ENSP00000496894.1:n.*48G>A | |
| ENST00000649310.2:c.1072G>A | ENSP00000496839.2:p.Gly358Arg | |
| ENST00000649746.2:c.1072G>A | ENSP00000497913.2:p.Gly358Arg | |
| ENST00000649915.2:c.*2194G>A | ENSP00000497681.2:n.*2194G>A | |
| ENST00000696189.1:n.373G>A | ||
| ENST00000696196.1:c.1072G>A | ENSP00000512479.1:p.Gly358Arg | |
| ENST00000696197.1:c.1072G>A | ENSP00000512480.1:p.Gly358Arg | |
| ENST00000696218.1:n.184G>A | ||
| ENST00000696220.1:c.319G>A | ENSP00000512486.1:p.Gly107Arg | |
| ENST00000696221.1:c.319G>A | ENSP00000512487.1:p.Gly107Arg | |
| ENST00000696222.1:c.319G>A | ENSP00000512488.1:p.Gly107Arg | |
| ENST00000696223.1:c.319G>A | ENSP00000512489.1:p.Gly107Arg | |
| ENST00000696224.1:c.466G>A | ENSP00000512490.1:p.Gly156Arg | |
| ENST00000696225.1:c.1072G>A | ENSP00000512491.1:p.Gly358Arg | |
| ENST00000399837.8:c.1072G>A MANE Select | ENSP00000382731.2:p.Gly358Arg | |
| ENST00000449907.7:c.946G>A | ENSP00000406443.2:p.Gly316Arg | |
| ENST00000648061.1:c.*48G>A | ENSP00000496894.1:n.*48G>A | |
| ENST00000648668.1:n.510G>A | ||
| ENST00000649540.1:c.946G>A | ENSP00000497469.1:p.Gly316Arg | |
| ENST00000649915.1:c.2585G>A | ||
| ENST00000262607.3:c.1072G>A | ENSP00000262607.2:p.Gly358Arg | |
| ENST00000330232.8:c.349G>A | ENSP00000332871.4:p.Gly117Arg | |
| ENST00000399837.6:c.1072G>A | ENSP00000382731.2:p.Gly358Arg | |
| ENST00000399839.5:c.1072G>A | ENSP00000382733.1:p.Gly358Arg | |
| ENST00000449907.6:c.946G>A | ENSP00000406443.2:p.Gly316Arg | |
| ENST00000469063.1:n.380G>A | ||
| ENST00000610390.4:c.712G>A | ENSP00000483418.1:p.Gly238Arg | |
| NM_001282225.1:c.1072G>A | NP_001269154.1:p.Gly358Arg | |
| NM_001282226.1:c.1072G>A | NP_001269155.1:p.Gly358Arg | |
| NM_001282227.1:c.946G>A | NP_001269156.1:p.Gly316Arg | |
| NM_001282228.1:c.946G>A | NP_001269157.1:p.Gly316Arg | |
| NM_001282229.1:c.712G>A | NP_001269158.1:p.Gly238Arg | |
| NM_177405.2:c.349G>A | NP_803124.1:p.Gly117Arg | |
| XM_006724080.2:c.388G>A | XP_006724143.1:p.Gly130Arg | |
| XM_011546133.1:c.1072G>A | XP_011544435.1:p.Gly358Arg | |
| NM_001282225.2:c.1072G>A MANE Select | NP_001269154.1:p.Gly358Arg | |
| XM_006724080.3:c.388G>A | XP_006724143.1:p.Gly130Arg | |
| XM_011546133.2:c.1072G>A | XP_011544435.1:p.Gly358Arg | |
| NM_001282226.2:c.1072G>A | NP_001269155.1:p.Gly358Arg | |
| NM_001282227.2:c.946G>A | NP_001269156.1:p.Gly316Arg | |
| NM_001282228.2:c.946G>A | NP_001269157.1:p.Gly316Arg | |
| NM_177405.3:c.349G>A | NP_803124.1:p.Gly117Arg | |
| NM_001282229.2:c.712G>A | NP_001269158.1:p.Gly238Arg |