Linked Data
ClinVar Variation Id:
288264
dbSNP Id:
rs886043843
gnomAD v2:
9-14859430-G-C
gnomAD v3:
9-14859432-G-C
gnomAD v4:
9-14859432-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14859432G>C , CM000671.2:g.14859432G>C | GRCh38 |
| NC_000009.11:g.14859430G>C , CM000671.1:g.14859430G>C | GRCh37 |
| NC_000009.10:g.14849430G>C | NCBI36 |
| NG_017005.2:g.55805C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380880.4:c.382C>G MANE Select | ENSP00000370262.3:p.Leu128Val | |
| ENST00000380875.7:c.382C>G | ENSP00000370257.3:p.Leu128Val | |
| ENST00000380880.3:c.382C>G | ENSP00000370262.3:p.Leu128Val | |
| ENST00000422223.6:c.382C>G | ENSP00000412940.2:p.Leu128Val | |
| NM_144966.5:c.382C>G | NP_659403.4:p.Leu128Val | |
| XM_005251382.2:c.382C>G | XP_005251439.1:p.Leu128Val | |
| XM_006716726.2:c.382C>G | XP_006716789.1:p.Leu128Val | |
| XM_006716728.2:c.382C>G | XP_006716791.1:p.Leu128Val | |
| XM_011517748.1:c.382C>G | XP_011516050.1:p.Leu128Val | |
| XM_011517749.1:c.382C>G | XP_011516051.1:p.Leu128Val | |
| XM_011517750.1:c.382C>G | XP_011516052.1:p.Leu128Val | |
| XM_011517751.1:c.382C>G | XP_011516053.1:p.Leu128Val | |
| XM_011517752.1:c.382C>G | XP_011516054.1:p.Leu128Val | |
| XM_011517753.1:c.382C>G | XP_011516055.1:p.Leu128Val | |
| XM_011517754.1:c.382C>G | XP_011516056.1:p.Leu128Val | |
| XM_011517755.1:c.382C>G | XP_011516057.1:p.Leu128Val | |
| XM_011517756.1:c.382C>G | XP_011516058.1:p.Leu128Val | |
| XM_011517757.1:c.382C>G | XP_011516059.1:p.Leu128Val | |
| XR_929188.1:n.1168C>G | ||
| XR_929190.1:n.1168C>G | ||
| XM_005251382.4:c.382C>G | XP_005251439.1:p.Leu128Val | |
| XM_017014316.2:c.382C>G | XP_016869805.1:p.Leu128Val | |
| XM_017014317.1:c.382C>G | XP_016869806.1:p.Leu128Val | |
| XM_017014319.2:c.382C>G | XP_016869808.1:p.Leu128Val | |
| XM_017014320.2:c.382C>G | XP_016869809.1:p.Leu128Val | |
| XM_017014321.2:c.382C>G | XP_016869810.1:p.Leu128Val | |
| XM_017014322.1:c.382C>G | XP_016869811.1:p.Leu128Val | |
| XM_017014323.1:c.382C>G | XP_016869812.1:p.Leu128Val | |
| XM_017014324.2:c.382C>G | XP_016869813.1:p.Leu128Val | |
| XM_017014325.2:c.382C>G | XP_016869814.1:p.Leu128Val | |
| XM_017014326.1:c.-27C>G | XP_016869815.1:n.-27C>G | |
| XM_017014328.2:c.382C>G | XP_016869817.1:p.Leu128Val | |
| XM_017014329.2:c.382C>G | XP_016869818.1:p.Leu128Val | |
| XM_017014330.2:c.382C>G | XP_016869819.1:p.Leu128Val | |
| XR_001746194.2:n.1168C>G | ||
| XR_001746195.2:n.1168C>G | ||
| XR_001746196.2:n.1168C>G | ||
| XR_001746197.2:n.1168C>G | ||
| NM_001370060.1:c.382C>G | NP_001356989.1:p.Leu128Val | |
| NM_001370063.1:c.382C>G | NP_001356992.1:p.Leu128Val | |
| NM_001370065.1:c.382C>G | NP_001356994.1:p.Leu128Val | |
| NR_163238.1:n.1198C>G | ||
| NR_163239.1:n.956C>G | ||
| NR_163240.1:n.1193C>G | ||
| NR_163241.1:n.1193C>G | ||
| NM_001379081.2:c.382C>G MANE Select | NP_001366010.1:p.Leu128Val | |
| NM_144966.7:c.382C>G | NP_659403.4:p.Leu128Val | |
| NR_163238.2:n.1198C>G | ||
| NR_163239.2:n.956C>G |