Linked Data
ClinVar Variation Id:
1025769
ClinVar RCV Id:
RCV001326129
dbSNP Id:
rs750419936
ExAC:
11:8111635 A / T
gnomAD v2:
11-8111635-A-T
gnomAD v3:
11-8090088-A-T
gnomAD v4:
11-8090088-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090088A>T , CM000673.2:g.8090088A>T | GRCh38 |
| NC_000011.9:g.8111635A>T , CM000673.1:g.8111635A>T | GRCh37 |
| NC_000011.8:g.8068211A>T | NCBI36 |
| NG_029912.1:g.56456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.110A>T MANE Select | ENSP00000299506.3:p.Lys37Met | |
| ENST00000299506.2:c.110A>T | ENSP00000299506.2:p.Lys37Met | |
| ENST00000305253.8:c.275A>T | ENSP00000305426.4:p.Lys92Met | |
| ENST00000534099.5:c.128A>T | ENSP00000434400.1:p.Lys43Met | |
| NM_003320.4:c.275A>T | NP_003311.2:p.Lys92Met | |
| NM_177972.2:c.110A>T | NP_813977.1:p.Lys37Met | |
| XM_005253109.2:c.236A>T | XP_005253166.1:p.Lys79Met | |
| XM_011520344.1:c.146A>T | XP_011518646.1:p.Lys49Met | |
| XM_005253109.3:c.236A>T | XP_005253166.1:p.Lys79Met | |
| XM_011520344.2:c.146A>T | XP_011518646.1:p.Lys49Met | |
| NM_177972.3:c.110A>T MANE Select | NP_813977.1:p.Lys37Met | |
| NM_003320.5:c.275A>T | NP_003311.2:p.Lys92Met |