Linked Data
ClinVar Variation Id:
198981
dbSNP Id:
rs34396910
ExAC:
22:40757524 A / G
gnomAD v2:
22-40757524-A-G
gnomAD v3:
22-40361520-A-G
gnomAD v4:
22-40361520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40361520A>G , CM000684.2:g.40361520A>G | GRCh38 |
| NC_000022.10:g.40757524A>G , CM000684.1:g.40757524A>G | GRCh37 |
| NC_000022.9:g.39087470A>G | NCBI36 |
| NG_007993.1:g.20021A>G | |
| NG_007993.2:g.20021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*258A>G | ENSP00000485462.2:n.*258A>G | |
| ENST00000623287.4:c.*320A>G | ENSP00000485437.1:n.*320A>G | |
| ENST00000623632.4:c.792+1028A>G | ENSP00000485288.2:n.792+1028A>G | |
| ENST00000625194.4:c.895A>G | ENSP00000485289.2:p.Met299Val | |
| ENST00000636265.1:c.895A>G | ENSP00000490909.1:p.Met299Val | |
| ENST00000636433.1:n.917A>G | ||
| ENST00000636714.1:c.895A>G | ENSP00000490946.1:p.Met299Val | |
| ENST00000637666.2:c.895A>G | ENSP00000489696.2:p.Met299Val | |
| ENST00000637669.1:c.895A>G | ENSP00000489728.1:p.Met299Val | |
| ENST00000639722.1:c.*591A>G | ENSP00000492828.1:n.*591A>G | |
| ENST00000674592.1:n.1064A>G | ||
| ENST00000675622.1:n.3962A>G | ||
| ENST00000679609.1:c.*505A>G | ENSP00000506592.1:n.*505A>G | |
| ENST00000679656.1:n.1580A>G | ||
| ENST00000679723.1:c.850A>G | ENSP00000505155.1:p.Met284Val | |
| ENST00000679845.1:n.1203A>G | ||
| ENST00000679904.1:n.1291A>G | ||
| ENST00000680378.1:c.982A>G | ENSP00000505556.1:p.Met328Val | |
| ENST00000680444.1:c.*258A>G | ENSP00000505298.1:n.*258A>G | |
| ENST00000680978.1:c.895A>G | ENSP00000505244.1:p.Met299Val | |
| ENST00000681003.1:n.327A>G | ||
| ENST00000681159.1:n.954A>G | ||
| ENST00000216194.11:c.937A>G | ENSP00000216194.8:p.Met313Val | |
| ENST00000342312.9:c.895A>G | ENSP00000341429.6:p.Met299Val | |
| ENST00000480775.2:c.494A>G | ||
| ENST00000623063.3:c.895A>G MANE Select | ENSP00000485525.1:p.Met299Val | |
| ENST00000623287.3:c.*320A>G | ENSP00000485437.1:n.*320A>G | |
| ENST00000623978.3:c.355A>G | ENSP00000485477.1:p.Met119Val | |
| ENST00000625194.3:c.482A>G | ||
| NM_000026.2:c.895A>G | NP_000017.1:p.Met299Val | |
| NM_001123378.1:c.895A>G | NP_001116850.1:p.Met299Val | |
| XM_011529976.1:c.895A>G | XP_011528278.1:p.Met299Val | |
| XM_011529977.1:c.895A>G | XP_011528279.1:p.Met299Val | |
| XM_011529978.1:c.895A>G | XP_011528280.1:p.Met299Val | |
| XM_011529979.1:c.895A>G | XP_011528281.1:p.Met299Val | |
| XM_011529980.1:c.895A>G | XP_011528282.1:p.Met299Val | |
| XM_011529981.1:c.430A>G | XP_011528283.1:p.Met144Val | |
| XM_011529982.1:c.64A>G | XP_011528284.1:p.Met22Val | |
| XR_937824.1:n.954A>G | ||
| XR_937825.1:n.954A>G | ||
| XR_937826.1:n.1139A>G | ||
| NM_000026.3:c.895A>G | NP_000017.1:p.Met299Val | |
| NM_001123378.2:c.895A>G | NP_001116850.1:p.Met299Val | |
| NM_001317923.1:c.703A>G | NP_001304852.1:p.Met235Val | |
| NM_001363840.1:c.895A>G | NP_001350769.1:p.Met299Val | |
| NR_134256.1:n.954A>G | ||
| XM_011529977.3:c.895A>G | XP_011528279.1:p.Met299Val | |
| XM_011529980.3:c.895A>G | XP_011528282.1:p.Met299Val | |
| XM_017028636.1:c.850A>G | XP_016884125.1:p.Met284Val | |
| XM_017028637.1:c.850A>G | XP_016884126.1:p.Met284Val | |
| XM_017028638.1:c.430A>G | XP_016884127.1:p.Met144Val | |
| XM_017028639.2:c.430A>G | XP_016884128.1:p.Met144Val | |
| XM_017028640.1:c.64A>G | XP_016884129.1:p.Met22Val | |
| XM_024452166.1:c.850A>G | XP_024307934.1:p.Met284Val | |
| XR_001755176.2:n.1137A>G | ||
| XR_002958670.1:n.891A>G | ||
| XR_002958671.1:n.1137A>G | ||
| XR_937825.3:n.952A>G | ||
| NM_000026.4:c.895A>G MANE Select | NP_000017.1:p.Met299Val | |
| NM_001363840.2:c.895A>G | NP_001350769.1:p.Met299Val | |
| NM_001123378.3:c.895A>G | NP_001116850.1:p.Met299Val | |
| NM_001317923.2:c.703A>G | NP_001304852.1:p.Met235Val | |
| NM_001363840.3:c.895A>G | NP_001350769.1:p.Met299Val | |
| NR_134256.2:n.954A>G |