Linked Data
dbSNP Id:
rs770392439
ExAC:
10:81317276 T / G
gnomAD v2:
10-81317276-T-G
gnomAD v3:
10-79557520-T-G
gnomAD v4:
10-79557520-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557520T>G , CM000672.2:g.79557520T>G | GRCh38 |
| NC_000010.10:g.81317276T>G , CM000672.1:g.81317276T>G | GRCh37 |
| NG_013046.1:g.7888A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.436A>C MANE Select | ENSP00000361400.2:p.Ile146Leu | |
| ENST00000372325.6:c.436A>C | ENSP00000361400.2:p.Ile146Leu | |
| ENST00000372327.9:c.436A>C | ENSP00000361402.5:p.Ile146Leu | |
| ENST00000417041.1:c.436A>C | ENSP00000397375.1:p.Ile146Leu | |
| NM_001098668.2:c.436A>C | NP_001092138.1:p.Ile146Leu | |
| XM_005270128.2:c.487A>C | XP_005270185.1:p.Ile163Leu | |
| XM_005270131.3:c.436A>C | XP_005270188.1:p.Ile146Leu | |
| XM_005270132.3:c.436A>C | XP_005270189.1:p.Ile146Leu | |
| XM_011540124.1:c.436A>C | XP_011538426.1:p.Ile146Leu | |
| XM_011540125.1:c.436A>C | XP_011538427.1:p.Ile146Leu | |
| NM_001098668.3:c.436A>C | NP_001092138.1:p.Ile146Leu | |
| NM_001320813.1:c.436A>C | NP_001307742.1:p.Ile146Leu | |
| NM_001320814.1:c.466A>C | NP_001307743.1:p.Ile156Leu | |
| XM_005270128.3:c.487A>C | XP_005270185.1:p.Ile163Leu | |
| XM_017016608.1:c.436A>C | XP_016872097.1:p.Ile146Leu | |
| NM_001098668.4:c.436A>C MANE Select | NP_001092138.1:p.Ile146Leu | |
| NM_001320813.2:c.436A>C | NP_001307742.1:p.Ile146Leu |