Linked Data
ClinVar Variation Id:
1679660
dbSNP Id:
rs991634550
gnomAD v3:
2-224513615-T-C
gnomAD v4:
2-224513615-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224513615T>C , CM000664.2:g.224513615T>C | GRCh38 |
| NC_000002.11:g.225378332T>C , CM000664.1:g.225378332T>C | GRCh37 |
| NC_000002.10:g.225086576T>C | NCBI36 |
| NG_032169.1:g.76783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.563A>G MANE Select | ENSP00000264414.4:p.Gln188Arg | |
| ENST00000264414.8:c.563A>G | ENSP00000264414.4:p.Gln188Arg | |
| ENST00000344951.8:c.365A>G | ENSP00000343601.4:p.Gln122Arg | |
| ENST00000409096.5:c.491A>G | ENSP00000387200.1:p.Gln164Arg | |
| ENST00000409777.5:c.491A>G | ENSP00000386525.1:p.Gln164Arg | |
| ENST00000432260.2:c.587A>G | ENSP00000484410.1:n.587A>G | |
| ENST00000541548.5:n.299A>G | ||
| NM_001257197.1:c.365A>G | NP_001244126.1:p.Gln122Arg | |
| NM_001257198.1:c.581A>G | NP_001244127.1:p.Gln194Arg | |
| NM_003590.4:c.563A>G | NP_003581.1:p.Gln188Arg | |
| XM_006712800.2:c.530A>G | XP_006712863.2:p.Gln177Arg | |
| XM_011511994.1:c.416A>G | XP_011510296.1:p.Gln139Arg | |
| XM_011511995.1:c.521A>G | XP_011510297.1:p.Gln174Arg | |
| XM_011511996.1:c.371A>G | XP_011510298.1:p.Gln124Arg | |
| XM_011511997.1:c.263A>G | XP_011510299.1:p.Gln88Arg | |
| XM_011511994.3:c.416A>G | XP_011510296.1:p.Gln139Arg | |
| XM_011511996.2:c.371A>G | XP_011510298.1:p.Gln124Arg | |
| NM_003590.5:c.563A>G MANE Select | NP_003581.1:p.Gln188Arg | |
| NM_001257198.2:c.581A>G | NP_001244127.1:p.Gln194Arg | |
| NM_001257197.2:c.365A>G | NP_001244126.1:p.Gln122Arg |