WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs119471022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26470774G>T , CM000684.2:g.26470774G>T | GRCh38 |
| NC_000022.10:g.26866740G>T , CM000684.1:g.26866740G>T | GRCh37 |
| NC_000022.9:g.25196740G>T | NCBI36 |
| NG_009763.2:g.18090C>A , LRG_590:g.18090C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422379.3:c.541C>A | ENSP00000415081.3:p.Gln181Lys | |
| ENST00000473782.2:c.541C>A | ENSP00000514223.1:p.Gln181Lys | |
| ENST00000483631.2:c.-255C>A | ENSP00000514228.1:n.-255C>A | |
| ENST00000491142.2:c.541C>A | ENSP00000514221.1:p.Gln181Lys | |
| ENST00000699227.1:c.541C>A | ENSP00000514220.1:p.Gln181Lys | |
| ENST00000699228.1:n.1091C>A | ||
| ENST00000699233.1:n.412C>A | ||
| ENST00000699234.1:c.526C>A | ENSP00000514222.1:p.Gln176Lys | |
| ENST00000699235.1:c.-182C>A | ENSP00000514224.1:n.-182C>A | |
| ENST00000699236.1:c.541C>A | ENSP00000514225.1:p.Gln181Lys | |
| ENST00000699237.1:c.541C>A | ENSP00000514226.1:p.Gln181Lys | |
| ENST00000699238.1:c.*59C>A | ENSP00000514227.1:n.*59C>A | |
| ENST00000699239.1:n.1007C>A | ||
| ENST00000699240.1:c.*198C>A | ENSP00000514229.1:n.*198C>A | |
| ENST00000699241.1:c.*59C>A | ENSP00000514230.1:n.*59C>A | |
| ENST00000699242.1:c.397C>A | ENSP00000514231.1:p.Gln133Lys | |
| ENST00000699243.1:c.541C>A | ENSP00000514232.1:p.Gln181Lys | |
| ENST00000699244.1:c.541C>A | ENSP00000514233.1:p.Gln181Lys | |
| ENST00000699246.1:c.*59C>A | ENSP00000514234.1:n.*59C>A | |
| ENST00000699247.1:c.541C>A | ENSP00000514235.1:p.Gln181Lys | |
| ENST00000699248.1:n.2611C>A | ||
| ENST00000699249.1:c.541C>A | ENSP00000514236.1:p.Gln181Lys | |
| ENST00000699250.1:c.541C>A | ENSP00000514237.1:p.Gln181Lys | |
| ENST00000699251.1:c.541C>A | ENSP00000514238.1:p.Gln181Lys | |
| ENST00000699252.1:n.1091C>A | ||
| ENST00000699253.1:n.2599C>A | ||
| ENST00000699254.1:n.2785C>A | ||
| ENST00000699255.1:n.2115C>A | ||
| ENST00000398145.7:c.541C>A MANE Select | ENSP00000381213.2:p.Gln181Lys | |
| ENST00000336873.9:c.541C>A | ENSP00000338457.5:p.Gln181Lys | |
| ENST00000398145.6:c.541C>A | ENSP00000381213.2:p.Gln181Lys | |
| ENST00000402105.7:c.526C>A | ENSP00000384185.3:p.Gln176Lys | |
| ENST00000422379.2:c.541C>A | ENSP00000415081.2:p.Gln181Lys | |
| ENST00000429411.5:c.*59C>A | ENSP00000399705.1:n.*59C>A | |
| ENST00000439453.5:c.*59C>A | ENSP00000406764.1:n.*59C>A | |
| ENST00000459918.1:n.360C>A | ||
| ENST00000464362.5:c.*198C>A | ENSP00000430291.1:n.*198C>A | |
| ENST00000466781.5:n.1112C>A | ||
| ENST00000485842.5:n.276C>A | ||
| ENST00000496385.5:n.633C>A | ||
| NM_022081.5:c.541C>A , LRG_590t1:c.541C>A | NP_071364.4:p.Gln181Lys | |
| NM_152841.2:c.526C>A , LRG_590t2:c.526C>A | NP_690054.1:p.Gln176Lys | |
| NR_073135.1:n.1227C>A | ||
| NR_073136.1:n.935C>A | ||
| XM_006724353.2:c.541C>A | XP_006724416.1:p.Gln181Lys | |
| XM_006724354.2:c.541C>A | XP_006724417.1:p.Gln181Lys | |
| XM_006724360.2:c.-148C>A | XP_006724423.1:n.-148C>A | |
| XM_011530485.1:c.619C>A | XP_011528787.1:p.Gln207Lys | |
| XM_011530486.1:c.619C>A | XP_011528788.1:p.Gln207Lys | |
| XM_011530487.1:c.619C>A | XP_011528789.1:p.Gln207Lys | |
| XM_011530488.1:c.619C>A | XP_011528790.1:p.Gln207Lys | |
| XM_011530489.1:c.619C>A | XP_011528791.1:p.Gln207Lys | |
| XM_011530490.1:c.619C>A | XP_011528792.1:p.Gln207Lys | |
| XM_011530491.1:c.619C>A | XP_011528793.1:p.Gln207Lys | |
| XM_011530492.1:c.619C>A | XP_011528794.1:p.Gln207Lys | |
| XM_011530493.1:c.619C>A | XP_011528795.1:p.Gln207Lys | |
| XM_011530494.1:c.-174C>A | XP_011528796.1:n.-174C>A | |
| XR_937947.1:n.1278C>A | ||
| NM_001349896.1:c.541C>A | NP_001336825.1:p.Gln181Lys | |
| NM_001349898.1:c.541C>A | NP_001336827.1:p.Gln181Lys | |
| NM_001349899.1:c.541C>A | NP_001336828.1:p.Gln181Lys | |
| NM_001349900.1:c.541C>A | NP_001336829.1:p.Gln181Lys | |
| NM_001349901.1:c.541C>A | NP_001336830.1:p.Gln181Lys | |
| NM_001349902.1:c.541C>A | NP_001336831.1:p.Gln181Lys | |
| NM_001349903.1:c.541C>A | NP_001336832.1:p.Gln181Lys | |
| NM_001349904.1:c.541C>A | NP_001336833.1:p.Gln181Lys | |
| NM_001349905.1:c.541C>A | NP_001336834.1:p.Gln181Lys | |
| NR_146311.1:n.1318C>A | ||
| NR_146312.1:n.1118C>A | ||
| NR_146313.1:n.1138C>A | ||
| NR_146314.1:n.1294C>A | ||
| NR_146315.1:n.1209C>A | ||
| NR_146316.1:n.1209C>A | ||
| XM_006724360.3:c.-148C>A | XP_006724423.1:n.-148C>A | |
| XM_011530485.2:c.619C>A | XP_011528787.1:p.Gln207Lys | |
| XM_011530486.2:c.619C>A | XP_011528788.1:p.Gln207Lys | |
| XM_011530487.2:c.619C>A | XP_011528789.1:p.Gln207Lys | |
| XM_011530488.2:c.619C>A | XP_011528790.1:p.Gln207Lys | |
| XM_011530489.2:c.619C>A | XP_011528791.1:p.Gln207Lys | |
| XM_011530490.3:c.619C>A | XP_011528792.1:p.Gln207Lys | |
| XM_011530491.3:c.619C>A | XP_011528793.1:p.Gln207Lys | |
| XM_011530492.2:c.619C>A | XP_011528794.1:p.Gln207Lys | |
| XM_011530493.3:c.619C>A | XP_011528795.1:p.Gln207Lys | |
| XM_011530494.2:c.-174C>A | XP_011528796.1:n.-174C>A | |
| XM_017029045.2:c.619C>A | XP_016884534.1:p.Gln207Lys | |
| XM_017029046.2:c.541C>A | XP_016884535.1:p.Gln181Lys | |
| XM_017029047.2:c.619C>A | XP_016884536.1:p.Gln207Lys | |
| XM_017029052.2:c.79C>A | XP_016884541.1:p.Gln27Lys | |
| XM_017029056.2:c.-255C>A | XP_016884545.1:n.-255C>A | |
| XM_017029061.2:c.-280C>A | XP_016884550.1:n.-280C>A | |
| XM_017029062.2:c.-255C>A | XP_016884551.1:n.-255C>A | |
| XM_017029063.2:c.-280C>A | XP_016884552.1:n.-280C>A | |
| XM_017029064.2:c.-255C>A | XP_016884553.1:n.-255C>A | |
| XM_024452298.1:c.-2375C>A | XP_024308066.1:n.-2375C>A | |
| XM_024452299.1:c.-929C>A | XP_024308067.1:n.-929C>A | |
| XM_024452300.1:c.-280C>A | XP_024308068.1:n.-280C>A | |
| XR_001755361.2:n.1195C>A | ||
| XR_001755364.1:n.1105C>A | ||
| XR_001755366.2:n.1104C>A | ||
| XR_002958721.1:n.1273C>A | ||
| XR_937947.2:n.1273C>A | ||
| NM_001349898.2:c.541C>A | NP_001336827.1:p.Gln181Lys | |
| NM_001349899.2:c.541C>A | NP_001336828.1:p.Gln181Lys | |
| NM_001349900.2:c.541C>A | NP_001336829.1:p.Gln181Lys | |
| NM_001349903.2:c.541C>A | NP_001336832.1:p.Gln181Lys | |
| NM_001349904.2:c.541C>A | NP_001336833.1:p.Gln181Lys | |
| NR_073136.2:n.742C>A | ||
| NR_146311.2:n.1238C>A | ||
| NR_146313.2:n.1058C>A | ||
| NR_146315.2:n.1129C>A | ||
| NM_022081.6:c.541C>A MANE Select | NP_071364.4:p.Gln181Lys | |
| NR_146316.2:n.1129C>A |