Linked Data
ClinVar Variation Id:
260745
dbSNP Id:
rs3764340
ExAC:
16:78466437 C / G
gnomAD v2:
16-78466437-C-G
gnomAD v3:
16-78432540-C-G
gnomAD v4:
16-78432540-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78432540C>G , CM000678.2:g.78432540C>G | GRCh38 |
| NC_000016.9:g.78466437C>G , CM000678.1:g.78466437C>G | GRCh37 |
| NC_000016.8:g.77023938C>G | NCBI36 |
| NG_011698.1:g.337887C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627394.3:c.844C>G | ENSP00000485925.2:p.Pro282Ala | |
| ENST00000683929.1:c.844C>G | ENSP00000507689.1:p.Pro282Ala | |
| ENST00000684632.1:n.1223C>G | ||
| ENST00000566780.6:c.844C>G MANE Select | ENSP00000457230.1:p.Pro282Ala | |
| ENST00000402655.6:c.409+317386C>G | ENSP00000384238.2:n.409+317386C>G | |
| ENST00000406884.6:c.516+268251C>G | ENSP00000384495.2:n.516+268251C>G | |
| ENST00000408984.7:c.844C>G | ENSP00000386161.3:p.Pro282Ala | |
| ENST00000539474.6:c.409+317386C>G | ENSP00000445210.2:n.409+317386C>G | |
| ENST00000562639.5:n.532C>G | ||
| ENST00000566780.5:c.844C>G | ENSP00000457230.1:p.Pro282Ala | |
| ENST00000569332.5:c.*641C>G | ENSP00000454788.1:n.*641C>G | |
| ENST00000620008.1:c.238C>G | ENSP00000482648.1:p.Pro80Ala | |
| NM_001291997.1:c.505C>G | NP_001278926.1:p.Pro169Ala | |
| NM_016373.3:c.844C>G | NP_057457.1:p.Pro282Ala | |
| XM_006721195.2:c.844C>G | XP_006721258.1:p.Pro282Ala | |
| XM_011523100.1:c.844C>G | XP_011521402.1:p.Pro282Ala | |
| XM_011523101.1:c.844C>G | XP_011521403.1:p.Pro282Ala | |
| XM_011523102.1:c.844C>G | XP_011521404.1:p.Pro282Ala | |
| XM_011523103.1:c.844C>G | XP_011521405.1:p.Pro282Ala | |
| XM_011523104.1:c.844C>G | XP_011521406.1:p.Pro282Ala | |
| XR_933765.1:n.3419-1727G>C | ||
| XM_011523101.3:c.844C>G | XP_011521403.1:p.Pro282Ala | |
| XM_011523103.3:c.844C>G | XP_011521405.1:p.Pro282Ala | |
| XM_011523104.3:c.844C>G | XP_011521406.1:p.Pro282Ala | |
| NM_016373.4:c.844C>G MANE Select | NP_057457.1:p.Pro282Ala | |
| NM_001291997.2:c.505C>G | NP_001278926.1:p.Pro169Ala |