Linked Data
ClinVar Variation Id:
2807719
ClinVar RCV Id:
RCV003741670
dbSNP Id:
rs775591257
ExAC:
16:10031933 C / G
gnomAD v2:
16-10031933-C-G
gnomAD v4:
16-9938076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938076C>G , CM000678.2:g.9938076C>G | GRCh38 |
| NC_000016.9:g.10031933C>G , CM000678.1:g.10031933C>G | GRCh37 |
| NC_000016.8:g.9939434C>G | NCBI36 |
| NG_011812.1:g.249679G>C | |
| NG_011812.2:g.249679G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.890G>C MANE Select | ENSP00000332549.3:p.Gly297Ala | |
| ENST00000535259.6:c.419G>C | ENSP00000441572.3:p.Gly140Ala | |
| ENST00000636273.2:n.483G>C | ||
| ENST00000637393.1:c.482G>C | ENSP00000490232.1:p.Gly161Ala | |
| ENST00000674742.1:c.419G>C | ENSP00000502200.1:p.Gly140Ala | |
| ENST00000675189.1:n.1374G>C | ||
| ENST00000675398.1:c.890G>C | ENSP00000502752.1:p.Gly297Ala | |
| ENST00000330684.3:c.890G>C | ENSP00000332549.3:p.Gly297Ala | |
| ENST00000396573.6:c.890G>C | ENSP00000379818.2:p.Gly297Ala | |
| ENST00000396575.6:c.479G>C | ENSP00000379820.3:p.Gly160Ala | |
| ENST00000461292.3:n.529G>C | ||
| ENST00000535259.5:c.479G>C | ENSP00000441572.2:p.Gly160Ala | |
| ENST00000562109.5:c.890G>C | ENSP00000454998.1:p.Gly297Ala | |
| ENST00000566683.1:n.241-46976G>C | ||
| ENST00000568247.3:n.782G>C | ||
| NM_000833.4:c.890G>C | NP_000824.1:p.Gly297Ala | |
| NM_001134407.2:c.890G>C | NP_001127879.1:p.Gly297Ala | |
| NM_001134408.2:c.890G>C | NP_001127880.1:p.Gly297Ala | |
| XM_011522456.1:c.731G>C | XP_011520758.1:p.Gly244Ala | |
| XM_011522457.1:c.632G>C | XP_011520759.1:p.Gly211Ala | |
| XM_011522458.1:c.419G>C | XP_011520760.1:p.Gly140Ala | |
| XM_011522459.1:c.419G>C | XP_011520761.1:p.Gly140Ala | |
| XM_011522460.1:c.419G>C | XP_011520762.1:p.Gly140Ala | |
| XM_011522461.1:c.890G>C | XP_011520763.1:p.Gly297Ala | |
| XM_011522458.3:c.419G>C | XP_011520760.1:p.Gly140Ala | |
| XM_011522461.3:c.890G>C | XP_011520763.1:p.Gly297Ala | |
| XM_017023172.1:c.1046G>C | XP_016878661.1:p.Gly349Ala | |
| XM_017023173.1:c.1046G>C | XP_016878662.1:p.Gly349Ala | |
| NM_001134407.3:c.890G>C MANE Select | NP_001127879.1:p.Gly297Ala | |
| NM_000833.5:c.890G>C | NP_000824.1:p.Gly297Ala |