Linked Data
ClinVar Variation Id:
422533
dbSNP Id:
rs1064795842
gnomAD v2:
19-11097598-A-C
gnomAD v3:
19-10986922-A-C
gnomAD v4:
19-10986922-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10986922A>C , CM000681.2:g.10986922A>C | GRCh38 |
| NC_000019.9:g.11097598A>C , CM000681.1:g.11097598A>C | GRCh37 |
| NC_000019.8:g.10958598A>C | NCBI36 |
| NG_011556.2:g.31001A>C | |
| NG_011556.3:g.30991A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.778A>C | ENSP00000518564.1:p.Met260Leu | |
| ENST00000704344.1:c.778A>C | ENSP00000515855.1:p.Met260Leu | |
| ENST00000704345.1:c.778A>C | ENSP00000515856.1:p.Met260Leu | |
| ENST00000646693.2:c.778A>C MANE Plus Clinical | ENSP00000495368.1:p.Met260Leu | |
| ENST00000344626.10:c.778A>C MANE Select | ENSP00000343896.4:p.Met260Leu | |
| ENST00000429416.8:c.778A>C | ENSP00000395654.1:p.Met260Leu | |
| ENST00000444061.8:c.778A>C | ENSP00000392837.2:p.Met260Leu | |
| ENST00000590574.6:c.778A>C | ENSP00000466963.1:p.Met260Leu | |
| ENST00000591545.6:c.651A>C | ||
| ENST00000642628.1:c.778A>C | ENSP00000496498.1:p.Met260Leu | |
| ENST00000642726.1:c.778A>C | ENSP00000494353.1:p.Met260Leu | |
| ENST00000643296.1:c.778A>C | ENSP00000496635.1:p.Met260Leu | |
| ENST00000643549.1:c.778A>C | ENSP00000493975.1:p.Met260Leu | |
| ENST00000643995.1:c.192A>C | ||
| ENST00000644737.1:c.778A>C | ENSP00000495548.1:p.Met260Leu | |
| ENST00000645460.1:c.778A>C | ENSP00000494463.1:p.Met260Leu | |
| ENST00000646484.1:c.778A>C | ENSP00000495536.1:p.Met260Leu | |
| ENST00000646510.1:c.778A>C | ENSP00000494772.1:p.Met260Leu | |
| ENST00000646693.1:c.778A>C | ENSP00000495368.1:p.Met260Leu | |
| ENST00000647230.1:c.778A>C | ENSP00000494676.1:p.Met260Leu | |
| ENST00000344626.8:c.778A>C | ENSP00000343896.4:p.Met260Leu | |
| ENST00000413806.7:c.778A>C | ENSP00000414727.3:p.Met260Leu | |
| ENST00000429416.7:c.778A>C | ENSP00000395654.1:p.Met260Leu | |
| ENST00000444061.7:c.778A>C | ENSP00000392837.2:p.Met260Leu | |
| ENST00000450717.7:c.778A>C | ENSP00000397783.3:p.Met260Leu | |
| ENST00000541122.6:c.778A>C | ENSP00000445036.2:p.Met260Leu | |
| ENST00000589677.5:c.778A>C | ENSP00000464778.1:p.Met260Leu | |
| ENST00000590574.5:c.778A>C | ENSP00000466963.1:p.Met260Leu | |
| ENST00000591545.5:n.652A>C | ||
| NM_001128844.1:c.778A>C | NP_001122316.1:p.Met260Leu | |
| NM_001128845.1:c.778A>C | NP_001122317.1:p.Met260Leu | |
| NM_001128846.1:c.778A>C | NP_001122318.1:p.Met260Leu | |
| NM_001128847.1:c.778A>C | NP_001122319.1:p.Met260Leu | |
| NM_001128848.1:c.778A>C | NP_001122320.1:p.Met260Leu | |
| NM_001128849.1:c.778A>C | NP_001122321.1:p.Met260Leu | |
| NM_003072.3:c.778A>C | NP_003063.2:p.Met260Leu | |
| XM_005260028.2:c.778A>C | XP_005260085.1:p.Met260Leu | |
| XM_005260030.2:c.778A>C | XP_005260087.1:p.Met260Leu | |
| XM_005260031.2:c.778A>C | XP_005260088.1:p.Met260Leu | |
| XM_005260032.2:c.778A>C | XP_005260089.1:p.Met260Leu | |
| XM_005260033.2:c.778A>C | XP_005260090.1:p.Met260Leu | |
| XM_005260034.2:c.778A>C | XP_005260091.1:p.Met260Leu | |
| XM_005260035.2:c.778A>C | XP_005260092.1:p.Met260Leu | |
| XM_006722845.2:c.778A>C | XP_006722908.1:p.Met260Leu | |
| XM_006722846.2:c.778A>C | XP_006722909.1:p.Met260Leu | |
| XM_006722847.2:c.778A>C | XP_006722910.1:p.Met260Leu | |
| XM_011528198.1:c.778A>C | XP_011526500.1:p.Met260Leu | |
| XM_024451658.1:c.778A>C | XP_024307426.1:p.Met260Leu | |
| XM_024451659.1:c.778A>C | XP_024307427.1:p.Met260Leu | |
| XM_024451660.1:c.778A>C | XP_024307428.1:p.Met260Leu | |
| XM_024451661.1:c.778A>C | XP_024307429.1:p.Met260Leu | |
| XM_024451662.1:c.778A>C | XP_024307430.1:p.Met260Leu | |
| XM_024451663.1:c.778A>C | XP_024307431.1:p.Met260Leu | |
| XM_024451664.1:c.778A>C | XP_024307432.1:p.Met260Leu | |
| XM_024451665.1:c.778A>C | XP_024307433.1:p.Met260Leu | |
| XM_024451666.1:c.778A>C | XP_024307434.1:p.Met260Leu | |
| XM_024451667.1:c.778A>C | XP_024307435.1:p.Met260Leu | |
| NM_001128844.3:c.778A>C | NP_001122316.1:p.Met260Leu | |
| NM_001128845.2:c.778A>C | NP_001122317.1:p.Met260Leu | |
| NM_001128846.2:c.778A>C | NP_001122318.1:p.Met260Leu | |
| NM_001128847.4:c.778A>C | NP_001122319.1:p.Met260Leu | |
| NM_001128848.2:c.778A>C | NP_001122320.1:p.Met260Leu | |
| NM_001128849.3:c.778A>C | NP_001122321.1:p.Met260Leu | |
| NM_001374457.1:c.778A>C | NP_001361386.1:p.Met260Leu | |
| NM_003072.5:c.778A>C MANE Select | NP_003063.2:p.Met260Leu | |
| NR_164683.1:n.954A>C | ||
| NM_001387283.1:c.778A>C MANE Plus Clinical | NP_001374212.1:p.Met260Leu |