Linked Data
ClinVar Variation Id:
420960
dbSNP Id:
rs1064794819
gnomAD v3:
4-120816905-T-A
gnomAD v4:
4-120816905-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.120816905T>A , CM000666.2:g.120816905T>A | GRCh38 |
| NC_000004.11:g.121738060T>A , CM000666.1:g.121738060T>A | GRCh37 |
| NC_000004.10:g.121957510T>A | NCBI36 |
| NG_031862.2:g.110954A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264808.8:c.670A>T MANE Select | ENSP00000264808.3:p.Lys224Ter | |
| ENST00000264808.7:c.670A>T | ENSP00000264808.3:p.Lys224Ter | |
| ENST00000428209.6:c.651-331A>T | ENSP00000404832.2:n.651-331A>T | |
| ENST00000502409.1:c.201A>T | ||
| ENST00000505484.5:n.743A>T | ||
| ENST00000512845.5:n.738-331A>T | ||
| ENST00000515109.5:c.651-331A>T | ENSP00000422309.1:n.651-331A>T | |
| NM_001300823.1:c.651-331A>T | NP_001287752.1:n.651-331A>T | |
| NM_001300824.1:c.651-331A>T | NP_001287753.1:n.651-331A>T | |
| NM_018699.3:c.670A>T | NP_061169.2:p.Lys224Ter | |
| XM_005262708.2:c.670A>T | XP_005262765.1:p.Lys224Ter | |
| XM_011531562.1:c.670A>T | XP_011529864.1:p.Lys224Ter | |
| XM_011531563.1:c.651-331A>T | XP_011529865.1:n.651-331A>T | |
| XM_011531564.1:c.670A>T | XP_011529866.1:p.Lys224Ter | |
| XM_011531565.1:c.670A>T | XP_011529867.1:p.Lys224Ter | |
| XM_011531566.1:c.670A>T | XP_011529868.1:p.Lys224Ter | |
| XM_011531567.1:c.670A>T | XP_011529869.1:p.Lys224Ter | |
| XM_011531568.1:c.670A>T | XP_011529870.1:p.Lys224Ter | |
| XM_011531569.1:c.670A>T | XP_011529871.1:p.Lys224Ter | |
| XM_011531570.1:c.151+1448A>T | XP_011529872.1:n.151+1448A>T | |
| XR_938677.1:n.911A>T | ||
| XR_938678.1:n.911A>T | ||
| XR_938679.1:n.911A>T | ||
| XR_938680.1:n.911A>T | ||
| XM_005262708.3:c.670A>T | XP_005262765.1:p.Lys224Ter | |
| XM_011531562.2:c.670A>T | XP_011529864.1:p.Lys224Ter | |
| XM_011531563.2:c.651-331A>T | XP_011529865.1:n.651-331A>T | |
| XM_011531564.2:c.670A>T | XP_011529866.1:p.Lys224Ter | |
| XM_011531565.2:c.670A>T | XP_011529867.1:p.Lys224Ter | |
| XM_011531566.3:c.670A>T | XP_011529868.1:p.Lys224Ter | |
| XM_011531567.2:c.670A>T | XP_011529869.1:p.Lys224Ter | |
| XM_011531568.2:c.670A>T | XP_011529870.1:p.Lys224Ter | |
| XM_011531569.3:c.670A>T | XP_011529871.1:p.Lys224Ter | |
| XM_011531570.3:c.151+1448A>T | XP_011529872.1:n.151+1448A>T | |
| XM_017007668.2:c.592A>T | XP_016863157.1:p.Lys198Ter | |
| XM_017007669.1:c.670A>T | XP_016863158.1:p.Lys224Ter | |
| XM_017007670.1:c.670A>T | XP_016863159.1:p.Lys224Ter | |
| XM_024453879.1:c.151+1448A>T | XP_024309647.1:n.151+1448A>T | |
| XR_938677.3:n.911A>T | ||
| XR_938680.2:n.911A>T | ||
| NM_001300823.2:c.651-331A>T | NP_001287752.1:n.651-331A>T | |
| NM_001300824.2:c.651-331A>T | NP_001287753.1:n.651-331A>T | |
| NM_001379104.1:c.670A>T | NP_001366033.1:p.Lys224Ter | |
| NM_001379106.1:c.651-331A>T | NP_001366035.1:n.651-331A>T | |
| NM_018699.4:c.670A>T MANE Select | NP_061169.2:p.Lys224Ter |