Linked Data
ClinVar Variation Id:
1358074
ClinVar RCV Id:
RCV001863982
dbSNP Id:
rs1010232462
gnomAD v3:
1-45500370-A-C
gnomAD v4:
1-45500370-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500370A>C , CM000663.2:g.45500370A>C | GRCh38 |
| NC_000001.10:g.45966042A>C , CM000663.1:g.45966042A>C | GRCh37 |
| NC_000001.9:g.45738629A>C | NCBI36 |
| NG_013378.1:g.5187A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.38A>C MANE Select | ENSP00000383840.4:p.Glu13Ala | |
| ENST00000401061.8:c.38A>C | ENSP00000383840.4:p.Glu13Ala | |
| ENST00000616135.1:c.-134A>C | ENSP00000478859.1:n.-134A>C | |
| NM_015506.2:c.38A>C | NP_056321.2:p.Glu13Ala | |
| XM_005270724.3:c.38A>C | XP_005270781.1:p.Glu13Ala | |
| XM_011541204.1:c.-185A>C | XP_011539506.1:n.-185A>C | |
| NM_001330540.1:c.-185A>C | NP_001317469.1:n.-185A>C | |
| XM_005270724.5:c.38A>C | XP_005270781.1:p.Glu13Ala | |
| NM_015506.3:c.38A>C MANE Select | NP_056321.2:p.Glu13Ala | |
| NM_001330540.2:c.-185A>C | NP_001317469.1:n.-185A>C |