Linked Data
ClinVar Variation Id:
388896
dbSNP Id:
rs778961690
ExAC:
5:145532737 C / T
gnomAD v2:
5-145532737-C-T
gnomAD v3:
5-146153174-C-T
gnomAD v4:
5-146153174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146153174C>T , CM000667.2:g.146153174C>T | GRCh38 |
| NC_000005.9:g.145532737C>T , CM000667.1:g.145532737C>T | GRCh37 |
| NC_000005.8:g.145512930C>T | NCBI36 |
| NG_042294.1:g.34558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.1284G>A MANE Select | ENSP00000377954.2:p.Pro428= | |
| ENST00000512412.2:n.1461G>A | ||
| ENST00000618084.2:n.1451G>A | ||
| ENST00000674158.1:c.903G>A | ENSP00000501474.1:p.Pro301= | |
| ENST00000674170.1:c.1284G>A | ENSP00000501381.1:p.Pro428= | |
| ENST00000674174.1:c.1122G>A | ENSP00000501434.1:p.Pro374= | |
| ENST00000674191.1:c.828G>A | ENSP00000501478.1:p.Pro276= | |
| ENST00000674218.1:n.1461G>A | ||
| ENST00000674270.1:c.1146G>A | ENSP00000501365.1:p.Pro382= | |
| ENST00000674277.1:c.1122G>A | ENSP00000501510.1:p.Pro374= | |
| ENST00000674290.1:c.1284G>A | ENSP00000501435.1:p.Pro428= | |
| ENST00000674309.1:c.1284G>A | ENSP00000501400.1:p.Pro428= | |
| ENST00000674310.1:c.1284G>A | ENSP00000501486.1:p.Pro428= | |
| ENST00000674383.1:n.1327G>A | ||
| ENST00000674398.1:c.1284G>A | ENSP00000501476.1:p.Pro428= | |
| ENST00000674412.1:n.1304G>A | ||
| ENST00000674417.1:n.1454G>A | ||
| ENST00000674447.1:c.1203G>A | ENSP00000501376.1:p.Pro401= | |
| ENST00000674450.1:n.1303G>A | ||
| ENST00000674467.1:c.1284G>A | ENSP00000501351.1:p.Pro428= | |
| ENST00000674479.1:n.1461G>A | ||
| ENST00000274562.13:c.-102-10184G>A | ENSP00000274562.10:n.-102-10184G>A | |
| ENST00000394434.6:c.1284G>A | ENSP00000377954.2:p.Pro428= | |
| ENST00000510191.5:c.1122G>A | ENSP00000426005.1:p.Pro374= | |
| NM_020117.9:c.1284G>A | NP_064502.9:p.Pro428= | |
| XM_011537655.1:c.1146G>A | XP_011535957.1:p.Pro382= | |
| XM_011537656.1:c.1122G>A | XP_011535958.1:p.Pro374= | |
| XM_011537657.1:c.1284G>A | XP_011535959.1:p.Pro428= | |
| NM_001317964.1:c.1146G>A | NP_001304893.1:p.Pro382= | |
| NM_001317965.1:c.1122G>A | NP_001304894.1:p.Pro374= | |
| NM_016460.3:c.1203G>A | NP_057544.2:p.Pro401= | |
| NM_020117.10:c.1284G>A | NP_064502.9:p.Pro428= | |
| XM_011537656.3:c.1122G>A | XP_011535958.1:p.Pro374= | |
| NM_020117.11:c.1284G>A MANE Select | NP_064502.9:p.Pro428= | |
| NM_001317964.2:c.1146G>A | NP_001304893.1:p.Pro382= | |
| NM_001317965.2:c.1122G>A | NP_001304894.1:p.Pro374= | |
| NM_016460.4:c.1203G>A | NP_057544.2:p.Pro401= |