Linked Data
ClinVar Variation Id:
143161
dbSNP Id:
rs2277596
ExAC:
15:73029268 A / G
gnomAD v2:
15-73029268-A-G
gnomAD v3:
15-72736927-A-G
gnomAD v4:
15-72736927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72736927A>G , CM000677.2:g.72736927A>G | GRCh38 |
| NC_000015.9:g.73029268A>G , CM000677.1:g.73029268A>G | GRCh37 |
| NC_000015.8:g.70816321A>G | NCBI36 |
| NG_009416.2:g.55743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1414A>G MANE Select | ENSP00000268057.4:p.Met472Val | |
| ENST00000268057.8:c.1414A>G | ENSP00000268057.4:p.Met472Val | |
| ENST00000395205.6:c.898A>G | ENSP00000378631.3:p.Met300Val | |
| ENST00000562084.5:c.*1493A>G | ENSP00000454718.1:n.*1493A>G | |
| ENST00000566197.1:c.459A>G | ||
| ENST00000566400.5:c.*1304A>G | ENSP00000456759.1:n.*1304A>G | |
| ENST00000567279.5:c.*1268A>G | ENSP00000456664.1:n.*1268A>G | |
| ENST00000568535.1:n.616A>G | ||
| NM_001252678.1:c.898A>G | NP_001239607.1:p.Met300Val | |
| NM_033028.4:c.1414A>G | NP_149017.2:p.Met472Val | |
| NR_045565.1:n.1521A>G | ||
| NR_045566.1:n.1776A>G | ||
| XM_006720625.2:c.1345A>G | XP_006720688.1:p.Met449Val | |
| XM_011521848.1:c.898A>G | XP_011520150.1:p.Met300Val | |
| XM_011521849.1:c.898A>G | XP_011520151.1:p.Met300Val | |
| XM_011521850.1:c.898A>G | XP_011520152.1:p.Met300Val | |
| XM_011521851.1:c.682A>G | XP_011520153.1:p.Met228Val | |
| NM_001320665.1:c.1345A>G | NP_001307594.1:p.Met449Val | |
| XM_017022450.1:c.1369A>G | XP_016877939.1:p.Met457Val | |
| XM_017022452.1:c.898A>G | XP_016877941.1:p.Met300Val | |
| XM_017022453.1:c.898A>G | XP_016877942.1:p.Met300Val | |
| XM_017022454.1:c.898A>G | XP_016877943.1:p.Met300Val | |
| NM_033028.5:c.1414A>G MANE Select | NP_149017.2:p.Met472Val | |
| NM_001252678.2:c.898A>G | NP_001239607.1:p.Met300Val | |
| NM_001320665.2:c.1345A>G | NP_001307594.1:p.Met449Val | |
| NR_045565.2:n.1493A>G | ||
| NR_045566.2:n.1748A>G |