Linked Data
ClinVar Variation Id:
320224
dbSNP Id:
rs886052228
gnomAD v2:
16-68710293-A-G
gnomAD v3:
16-68676390-A-G
gnomAD v4:
16-68676390-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68676390A>G , CM000678.2:g.68676390A>G | GRCh38 |
| NC_000016.9:g.68710293A>G , CM000678.1:g.68710293A>G | GRCh37 |
| NC_000016.8:g.67267794A>G | NCBI36 |
| NG_009096.1:g.37143A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.166A>G MANE Select | ENSP00000264012.4:p.Met56Val | |
| ENST00000264012.8:c.166A>G | ENSP00000264012.4:p.Met56Val | |
| ENST00000429102.6:c.166A>G | ENSP00000398485.2:p.Met56Val | |
| ENST00000542274.5:c.51A>G | ENSP00000464021.1:p.Ser17= | |
| ENST00000566808.2:c.115-1744A>G | ||
| NM_001793.4:c.166A>G | NP_001784.2:p.Met56Val | |
| XM_011522800.1:c.166A>G | XP_011521102.1:p.Met56Val | |
| NM_001317195.1:c.166A>G | NP_001304124.1:p.Met56Val | |
| NM_001317196.1:c.1A>G | NP_001304125.1:p.Met1Val | |
| NM_001793.5:c.166A>G | NP_001784.2:p.Met56Val | |
| XM_011522800.3:c.166A>G | XP_011521102.1:p.Met56Val | |
| NM_001793.6:c.166A>G MANE Select | NP_001784.2:p.Met56Val | |
| NM_001317195.2:c.166A>G | NP_001304124.1:p.Met56Val | |
| NM_001317196.2:c.1A>G | NP_001304125.1:p.Met1Val | |
| NM_001317195.3:c.166A>G | NP_001304124.1:p.Met56Val |