Linked Data
ClinVar Variation Id:
2601273
ClinVar RCV Id:
RCV004345795
dbSNP Id:
rs200387282
ExAC:
1:17662708 C / T
gnomAD v2:
1-17662708-C-T
gnomAD v3:
1-17336213-C-T
gnomAD v4:
1-17336213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336213C>T , CM000663.2:g.17336213C>T | GRCh38 |
| NC_000001.10:g.17662708C>T , CM000663.1:g.17662708C>T | GRCh37 |
| NC_000001.9:g.17535295C>T | NCBI36 |
| NG_023261.2:g.33024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.395C>T MANE Select | ENSP00000364597.4:p.Ala132Val | |
| NM_012387.2:c.395C>T | NP_036519.2:p.Ala132Val | |
| XM_011541150.1:c.340+2204C>T | XP_011539452.1:n.340+2204C>T | |
| XM_011541151.1:c.395C>T | XP_011539453.1:p.Ala132Val | |
| XM_011541152.1:c.-25C>T | XP_011539454.1:n.-25C>T | |
| XM_011541153.1:c.395C>T | XP_011539455.1:p.Ala132Val | |
| XM_011541154.1:c.395C>T | XP_011539456.1:p.Ala132Val | |
| XM_011541155.1:c.395C>T | XP_011539457.1:p.Ala132Val | |
| XM_011541156.1:c.395C>T | XP_011539458.1:p.Ala132Val | |
| XM_011541157.1:c.-318C>T | XP_011539459.1:n.-318C>T | |
| XM_011541154.2:c.395C>T | XP_011539456.1:p.Ala132Val | |
| NM_012387.3:c.395C>T MANE Select | NP_036519.2:p.Ala132Val |