Linked Data
ClinVar Variation Id:
864737
dbSNP Id:
rs145623562
ExAC:
11:8111674 C / T
gnomAD v2:
11-8111674-C-T
gnomAD v3:
11-8090127-C-T
gnomAD v4:
11-8090127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090127C>T , CM000673.2:g.8090127C>T | GRCh38 |
| NC_000011.9:g.8111674C>T , CM000673.1:g.8111674C>T | GRCh37 |
| NC_000011.8:g.8068250C>T | NCBI36 |
| NG_029912.1:g.56495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.149C>T MANE Select | ENSP00000299506.3:p.Ala50Val | |
| ENST00000299506.2:c.149C>T | ENSP00000299506.2:p.Ala50Val | |
| ENST00000305253.8:c.314C>T | ENSP00000305426.4:p.Ala105Val | |
| ENST00000534099.5:c.167C>T | ENSP00000434400.1:p.Ala56Val | |
| NM_003320.4:c.314C>T | NP_003311.2:p.Ala105Val | |
| NM_177972.2:c.149C>T | NP_813977.1:p.Ala50Val | |
| XM_005253109.2:c.275C>T | XP_005253166.1:p.Ala92Val | |
| XM_011520344.1:c.185C>T | XP_011518646.1:p.Ala62Val | |
| XM_005253109.3:c.275C>T | XP_005253166.1:p.Ala92Val | |
| XM_011520344.2:c.185C>T | XP_011518646.1:p.Ala62Val | |
| NM_177972.3:c.149C>T MANE Select | NP_813977.1:p.Ala50Val | |
| NM_003320.5:c.314C>T | NP_003311.2:p.Ala105Val |