Linked Data
ClinVar Variation Id:
3117882
ClinVar RCV Id:
RCV004410193
dbSNP Id:
rs557231507
ExAC:
5:145557107 C / A
gnomAD v2:
5-145557107-C-A
gnomAD v3:
5-146177544-C-A
gnomAD v4:
5-146177544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146177544C>A , CM000667.2:g.146177544C>A | GRCh38 |
| NC_000005.9:g.145557107C>A , CM000667.1:g.145557107C>A | GRCh37 |
| NC_000005.8:g.145537300C>A | NCBI36 |
| NG_042294.1:g.10188G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.125+3G>T MANE Select | ENSP00000377954.2:n.125+3G>T | |
| ENST00000505223.6:n.282+3G>T | ||
| ENST00000512412.2:n.302+3G>T | ||
| ENST00000618084.2:n.292+3G>T | ||
| ENST00000674158.1:c.-38+3G>T | ENSP00000501474.1:n.-38+3G>T | |
| ENST00000674170.1:c.125+3G>T | ENSP00000501381.1:n.125+3G>T | |
| ENST00000674174.1:c.-38+3G>T | ENSP00000501434.1:n.-38+3G>T | |
| ENST00000674191.1:c.-38+3G>T | ENSP00000501478.1:n.-38+3G>T | |
| ENST00000674218.1:n.302+3G>T | ||
| ENST00000674270.1:c.125+3G>T | ENSP00000501365.1:n.125+3G>T | |
| ENST00000674277.1:c.-38+3G>T | ENSP00000501510.1:n.-38+3G>T | |
| ENST00000674290.1:c.125+3G>T | ENSP00000501435.1:n.125+3G>T | |
| ENST00000674309.1:c.125+3G>T | ENSP00000501400.1:n.125+3G>T | |
| ENST00000674310.1:c.125+3G>T | ENSP00000501486.1:n.125+3G>T | |
| ENST00000674383.1:n.249+3G>T | ||
| ENST00000674398.1:c.125+3G>T | ENSP00000501476.1:n.125+3G>T | |
| ENST00000674412.1:n.145+3G>T | ||
| ENST00000674417.1:n.295+3G>T | ||
| ENST00000674447.1:c.125+3G>T | ENSP00000501376.1:n.125+3G>T | |
| ENST00000674450.1:n.282+3G>T | ||
| ENST00000674467.1:c.125+3G>T | ENSP00000501351.1:n.125+3G>T | |
| ENST00000674479.1:n.302+3G>T | ||
| ENST00000274562.13:c.-390+3G>T | ENSP00000274562.10:n.-390+3G>T | |
| ENST00000394434.6:c.125+3G>T | ENSP00000377954.2:n.125+3G>T | |
| ENST00000503654.5:n.328+3G>T | ||
| ENST00000505223.5:n.282+3G>T | ||
| ENST00000506436.1:n.455+3G>T | ||
| ENST00000510191.5:c.-37-4770G>T | ENSP00000426005.1:n.-37-4770G>T | |
| ENST00000511505.5:n.281+3G>T | ||
| ENST00000618084.1:c.125+3G>T | ENSP00000481381.1:n.125+3G>T | |
| NM_020117.9:c.125+3G>T | NP_064502.9:n.125+3G>T | |
| XM_011537655.1:c.125+3G>T | XP_011535957.1:n.125+3G>T | |
| XM_011537656.1:c.-38+3G>T | XP_011535958.1:n.-38+3G>T | |
| XM_011537657.1:c.125+3G>T | XP_011535959.1:n.125+3G>T | |
| NM_001317964.1:c.125+3G>T | NP_001304893.1:n.125+3G>T | |
| NM_001317965.1:c.-37-4770G>T | NP_001304894.1:n.-37-4770G>T | |
| NM_016460.3:c.125+3G>T | NP_057544.2:n.125+3G>T | |
| NM_020117.10:c.125+3G>T | NP_064502.9:n.125+3G>T | |
| XM_011537656.3:c.-38+3G>T | XP_011535958.1:n.-38+3G>T | |
| NM_020117.11:c.125+3G>T MANE Select | NP_064502.9:n.125+3G>T | |
| NM_001317964.2:c.125+3G>T | NP_001304893.1:n.125+3G>T | |
| NM_001317965.2:c.-37-4770G>T | NP_001304894.1:n.-37-4770G>T | |
| NM_016460.4:c.125+3G>T | NP_057544.2:n.125+3G>T |