UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
470264
ClinVar RCV Id:
RCV002413579
dbSNP Id:
rs745382051
ExAC:
19:11113756 G / A
gnomAD v2:
19-11113756-G-A
gnomAD v3:
19-11003080-G-A
gnomAD v4:
19-11003080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11003080G>A , CM000681.2:g.11003080G>A | GRCh38 |
| NC_000019.9:g.11113756G>A , CM000681.1:g.11113756G>A | GRCh37 |
| NC_000019.8:g.10974756G>A | NCBI36 |
| NG_011556.2:g.47159G>A | |
| NG_011556.3:g.47149G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711079.1:c.1864G>A | ENSP00000518564.1:p.Val622Met | |
| ENST00000704344.1:c.1864G>A | ENSP00000515855.1:p.Val622Met | |
| ENST00000704345.1:c.1864G>A | ENSP00000515856.1:p.Val622Met | |
| ENST00000646693.2:c.1864G>A MANE Plus Clinical | ENSP00000495368.1:p.Val622Met | |
| ENST00000344626.10:c.1864G>A MANE Select | ENSP00000343896.4:p.Val622Met | |
| ENST00000429416.8:c.1864G>A | ENSP00000395654.1:p.Val622Met | |
| ENST00000444061.8:c.1864G>A | ENSP00000392837.2:p.Val622Met | |
| ENST00000590574.6:c.1864G>A | ENSP00000466963.1:p.Val622Met | |
| ENST00000591545.6:c.1737G>A | ||
| ENST00000642350.1:c.349G>A | ENSP00000495355.1:p.Val117Met | |
| ENST00000642628.1:c.1864G>A | ENSP00000496498.1:p.Val622Met | |
| ENST00000642726.1:c.1864G>A | ENSP00000494353.1:p.Val622Met | |
| ENST00000643208.1:c.421G>A | ENSP00000496074.1:p.Val141Met | |
| ENST00000643296.1:c.1864G>A | ENSP00000496635.1:p.Val622Met | |
| ENST00000643534.1:c.149G>A | ||
| ENST00000643549.1:c.1864G>A | ENSP00000493975.1:p.Val622Met | |
| ENST00000643857.1:c.219G>A | ||
| ENST00000643995.1:c.1278G>A | ||
| ENST00000644065.1:c.591G>A | ||
| ENST00000644267.1:n.219G>A | ||
| ENST00000644290.1:c.272G>A | ||
| ENST00000644327.1:c.635G>A | ||
| ENST00000644737.1:c.1864G>A | ENSP00000495548.1:p.Val622Met | |
| ENST00000644963.1:c.509G>A | ||
| ENST00000645061.1:c.352G>A | ENSP00000493690.1:p.Val118Met | |
| ENST00000645460.1:c.1864G>A | ENSP00000494463.1:p.Val622Met | |
| ENST00000646183.1:c.210G>A | ||
| ENST00000646484.1:c.1864G>A | ENSP00000495536.1:p.Val622Met | |
| ENST00000646510.1:c.1864G>A | ENSP00000494772.1:p.Val622Met | |
| ENST00000646693.1:c.1864G>A | ENSP00000495368.1:p.Val622Met | |
| ENST00000646746.1:c.164G>A | ||
| ENST00000647230.1:c.1864G>A | ENSP00000494676.1:p.Val622Met | |
| ENST00000647268.1:c.217G>A | ENSP00000496176.1:p.Val73Met | |
| ENST00000344626.8:c.1864G>A | ENSP00000343896.4:p.Val622Met | |
| ENST00000413806.7:c.2056G>A | ENSP00000414727.3:p.Val686Met | |
| ENST00000429416.7:c.1864G>A | ENSP00000395654.1:p.Val622Met | |
| ENST00000444061.7:c.1864G>A | ENSP00000392837.2:p.Val622Met | |
| ENST00000450717.7:c.1864G>A | ENSP00000397783.3:p.Val622Met | |
| ENST00000541122.6:c.1864G>A | ENSP00000445036.2:p.Val622Met | |
| ENST00000589677.5:c.1864G>A | ENSP00000464778.1:p.Val622Met | |
| ENST00000590574.5:c.1864G>A | ENSP00000466963.1:p.Val622Met | |
| ENST00000591545.5:n.1738G>A | ||
| NM_001128844.1:c.1864G>A | NP_001122316.1:p.Val622Met | |
| NM_001128845.1:c.1864G>A | NP_001122317.1:p.Val622Met | |
| NM_001128846.1:c.1864G>A | NP_001122318.1:p.Val622Met | |
| NM_001128847.1:c.1864G>A | NP_001122319.1:p.Val622Met | |
| NM_001128848.1:c.1864G>A | NP_001122320.1:p.Val622Met | |
| NM_001128849.1:c.1864G>A | NP_001122321.1:p.Val622Met | |
| NM_003072.3:c.1864G>A | NP_003063.2:p.Val622Met | |
| XM_005260028.2:c.1864G>A | XP_005260085.1:p.Val622Met | |
| XM_005260030.2:c.1864G>A | XP_005260087.1:p.Val622Met | |
| XM_005260031.2:c.1864G>A | XP_005260088.1:p.Val622Met | |
| XM_005260032.2:c.1864G>A | XP_005260089.1:p.Val622Met | |
| XM_005260033.2:c.1864G>A | XP_005260090.1:p.Val622Met | |
| XM_005260034.2:c.1864G>A | XP_005260091.1:p.Val622Met | |
| XM_005260035.2:c.1864G>A | XP_005260092.1:p.Val622Met | |
| XM_006722845.2:c.1864G>A | XP_006722908.1:p.Val622Met | |
| XM_006722846.2:c.1864G>A | XP_006722909.1:p.Val622Met | |
| XM_006722847.2:c.1864G>A | XP_006722910.1:p.Val622Met | |
| XM_011528198.1:c.1864G>A | XP_011526500.1:p.Val622Met | |
| XM_024451658.1:c.1864G>A | XP_024307426.1:p.Val622Met | |
| XM_024451659.1:c.1864G>A | XP_024307427.1:p.Val622Met | |
| XM_024451660.1:c.1864G>A | XP_024307428.1:p.Val622Met | |
| XM_024451661.1:c.1864G>A | XP_024307429.1:p.Val622Met | |
| XM_024451662.1:c.1864G>A | XP_024307430.1:p.Val622Met | |
| XM_024451663.1:c.1864G>A | XP_024307431.1:p.Val622Met | |
| XM_024451664.1:c.1864G>A | XP_024307432.1:p.Val622Met | |
| XM_024451665.1:c.1864G>A | XP_024307433.1:p.Val622Met | |
| XM_024451666.1:c.1864G>A | XP_024307434.1:p.Val622Met | |
| XM_024451667.1:c.1864G>A | XP_024307435.1:p.Val622Met | |
| NM_001128844.3:c.1864G>A | NP_001122316.1:p.Val622Met | |
| NM_001128845.2:c.1864G>A | NP_001122317.1:p.Val622Met | |
| NM_001128846.2:c.1864G>A | NP_001122318.1:p.Val622Met | |
| NM_001128847.4:c.1864G>A | NP_001122319.1:p.Val622Met | |
| NM_001128848.2:c.1864G>A | NP_001122320.1:p.Val622Met | |
| NM_001128849.3:c.1864G>A | NP_001122321.1:p.Val622Met | |
| NM_001374457.1:c.1864G>A | NP_001361386.1:p.Val622Met | |
| NM_003072.5:c.1864G>A MANE Select | NP_003063.2:p.Val622Met | |
| NR_164683.1:n.2040G>A | ||
| NM_001387283.1:c.1864G>A MANE Plus Clinical | NP_001374212.1:p.Val622Met |