Linked Data
ClinVar Variation Id:
2112693
ClinVar RCV Id:
RCV003034700
dbSNP Id:
rs745362752
ExAC:
1:45974701 C / T
gnomAD v2:
1-45974701-C-T
gnomAD v4:
1-45509029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45509029C>T , CM000663.2:g.45509029C>T | GRCh38 |
| NC_000001.10:g.45974701C>T , CM000663.1:g.45974701C>T | GRCh37 |
| NC_000001.9:g.45747288C>T | NCBI36 |
| NG_013378.1:g.13846C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.663C>T MANE Select | ENSP00000383840.4:p.Ala221= | |
| ENST00000401061.8:c.663C>T | ENSP00000383840.4:p.Ala221= | |
| ENST00000616135.1:c.492C>T | ENSP00000478859.1:p.Ala164= | |
| NM_015506.2:c.663C>T | NP_056321.2:p.Ala221= | |
| XM_005270724.3:c.468C>T | XP_005270781.1:p.Ala156= | |
| XM_011541204.1:c.492C>T | XP_011539506.1:p.Ala164= | |
| NM_001330540.1:c.492C>T | NP_001317469.1:p.Ala164= | |
| XM_005270724.5:c.468C>T | XP_005270781.1:p.Ala156= | |
| NM_015506.3:c.663C>T MANE Select | NP_056321.2:p.Ala221= | |
| NM_001330540.2:c.492C>T | NP_001317469.1:p.Ala164= |