Linked Data
ClinVar Variation Id:
163968
dbSNP Id:
rs138680809
ExAC:
5:68716112 G / A
gnomAD v2:
5-68716112-G-A
gnomAD v3:
5-69420285-G-A
gnomAD v4:
5-69420285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69420285G>A , CM000667.2:g.69420285G>A | GRCh38 |
| NC_000005.9:g.68716112G>A , CM000667.1:g.68716112G>A | GRCh37 |
| NC_000005.8:g.68751868G>A | NCBI36 |
| NG_017201.1:g.10174G>A | |
| NG_017201.2:g.10174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.900G>A MANE Select | ENSP00000323264.5:p.Leu300= | |
| ENST00000413223.3:c.726-174G>A | ENSP00000398922.2:n.726-174G>A | |
| ENST00000436532.7:c.726-174G>A | ENSP00000414776.2:n.726-174G>A | |
| ENST00000645446.1:c.900G>A | ENSP00000494616.1:p.Leu300= | |
| ENST00000647531.1:c.900G>A | ENSP00000493858.1:p.Leu300= | |
| ENST00000325631.9:c.900G>A | ENSP00000323264.5:p.Leu300= | |
| ENST00000413223.2:c.726-174G>A | ENSP00000398922.2:n.726-174G>A | |
| ENST00000436532.6:c.726-174G>A | ENSP00000414776.2:n.726-174G>A | |
| ENST00000454295.6:c.900G>A | ENSP00000396244.2:p.Leu300= | |
| ENST00000512803.5:c.900G>A | ENSP00000423490.1:p.Leu300= | |
| NM_001038603.2:c.900G>A | NP_001033692.2:p.Leu300= | |
| NM_001244734.1:c.900G>A | NP_001231663.1:p.Leu300= | |
| XM_005248445.3:c.900G>A | XP_005248502.1:p.Leu300= | |
| XM_005248446.3:c.900G>A | XP_005248503.1:p.Leu300= | |
| XM_005248447.3:c.900G>A | XP_005248504.1:p.Leu300= | |
| XM_005248445.4:c.900G>A | XP_005248502.1:p.Leu300= | |
| XM_005248446.4:c.900G>A | XP_005248503.1:p.Leu300= | |
| XM_005248447.4:c.900G>A | XP_005248504.1:p.Leu300= | |
| NM_001038603.3:c.900G>A MANE Select | NP_001033692.2:p.Leu300= | |
| NM_001244734.2:c.900G>A | NP_001231663.1:p.Leu300= |