Linked Data
ClinVar Variation Id:
265190
dbSNP Id:
rs372353067
ExAC:
16:9857503 T / C
gnomAD v2:
16-9857503-T-C
gnomAD v3:
16-9763646-T-C
gnomAD v4:
16-9763646-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763646T>C , CM000678.2:g.9763646T>C | GRCh38 |
| NC_000016.9:g.9857503T>C , CM000678.1:g.9857503T>C | GRCh37 |
| NC_000016.8:g.9765004T>C | NCBI36 |
| NG_011812.1:g.424109A>G | |
| NG_011812.2:g.424109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.3898A>G MANE Select | ENSP00000332549.3:p.Arg1300Gly | |
| ENST00000535259.6:c.3301+126A>G | ENSP00000441572.3:n.3301+126A>G | |
| ENST00000636273.2:n.3365+126A>G | ||
| ENST00000674742.1:c.3427A>G | ENSP00000502200.1:p.Arg1143Gly | |
| ENST00000675398.1:c.*1268A>G | ENSP00000502752.1:n.*1268A>G | |
| ENST00000330684.3:c.3898A>G | ENSP00000332549.3:p.Arg1300Gly | |
| ENST00000396573.6:c.3898A>G | ENSP00000379818.2:p.Arg1300Gly | |
| ENST00000396575.6:c.3487A>G | ENSP00000379820.3:p.Arg1163Gly | |
| ENST00000461292.3:n.3411+126A>G | ||
| ENST00000535259.5:c.3361+126A>G | ENSP00000441572.2:n.3361+126A>G | |
| ENST00000562109.5:c.3772+126A>G | ENSP00000454998.1:n.3772+126A>G | |
| NM_000833.4:c.3898A>G | NP_000824.1:p.Arg1300Gly | |
| NM_001134407.2:c.3898A>G | NP_001127879.1:p.Arg1300Gly | |
| NM_001134408.2:c.3772+126A>G | NP_001127880.1:n.3772+126A>G | |
| XM_011522456.1:c.3739A>G | XP_011520758.1:p.Arg1247Gly | |
| XM_011522457.1:c.3640A>G | XP_011520759.1:p.Arg1214Gly | |
| XM_011522458.1:c.3427A>G | XP_011520760.1:p.Arg1143Gly | |
| XM_011522459.1:c.3427A>G | XP_011520761.1:p.Arg1143Gly | |
| XM_011522460.1:c.3427A>G | XP_011520762.1:p.Arg1143Gly | |
| XM_011522461.1:c.3772+126A>G | XP_011520763.1:n.3772+126A>G | |
| XM_011522458.3:c.3427A>G | XP_011520760.1:p.Arg1143Gly | |
| XM_011522461.3:c.3772+126A>G | XP_011520763.1:n.3772+126A>G | |
| XM_017023172.1:c.4054A>G | XP_016878661.1:p.Arg1352Gly | |
| XM_017023173.1:c.3928+126A>G | XP_016878662.1:n.3928+126A>G | |
| NM_001134407.3:c.3898A>G MANE Select | NP_001127879.1:p.Arg1300Gly | |
| NM_000833.5:c.3898A>G | NP_000824.1:p.Arg1300Gly |