Linked Data
ClinVar Variation Id:
335975
dbSNP Id:
rs78411167
gnomAD v2:
2-39209514-T-A
gnomAD v3:
2-38982373-T-A
gnomAD v4:
2-38982373-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38982373T>A , CM000664.2:g.38982373T>A | GRCh38 |
| NC_000002.11:g.39209514T>A , CM000664.1:g.39209514T>A | GRCh37 |
| NC_000002.10:g.39063018T>A | NCBI36 |
| NG_007530.1:g.143091A>T , LRG_754:g.143091A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.*3451A>T | ENSP00000509424.1:n.*3451A>T | |
| ENST00000692089.1:c.3399+5100A>T | ENSP00000508626.1:n.3399+5100A>T | |
| ENST00000402219.8:c.*3451A>T MANE Select | ENSP00000384675.2:n.*3451A>T | |
| ENST00000402219.6:c.*3451A>T | ENSP00000384675.2:n.*3451A>T | |
| ENST00000426016.5:c.*3451A>T | ENSP00000387784.1:n.*3451A>T | |
| NM_005633.3:c.*3451A>T , LRG_754t1:c.*3451A>T | NP_005624.2:n.*3451A>T | |
| XM_005264515.3:c.*3451A>T | XP_005264572.1:n.*3451A>T | |
| XM_011533060.1:c.*3451A>T | XP_011531362.1:n.*3451A>T | |
| XM_011533061.1:c.*3451A>T | XP_011531363.1:n.*3451A>T | |
| XM_011533062.1:c.*3451A>T | XP_011531364.1:n.*3451A>T | |
| XM_011533063.1:c.*3451A>T | XP_011531365.1:n.*3451A>T | |
| XM_011533064.1:c.*3451A>T | XP_011531366.1:n.*3451A>T | |
| XM_011533065.1:c.*2937A>T | XP_011531367.1:n.*2937A>T | |
| XM_011533066.1:c.*3451A>T | XP_011531368.1:n.*3451A>T | |
| NM_001382394.1:c.*3451A>T | NP_001369323.1:n.*3451A>T | |
| NM_001382395.1:c.*3451A>T | NP_001369324.1:n.*3451A>T | |
| NM_005633.4:c.*3451A>T MANE Select | NP_005624.2:n.*3451A>T |