Linked Data
ClinVar Variation Id:
297501
dbSNP Id:
rs35067820
gnomAD v2:
1-45975156-A-G
gnomAD v3:
1-45509484-A-G
gnomAD v4:
1-45509484-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45509484A>G , CM000663.2:g.45509484A>G | GRCh38 |
| NC_000001.10:g.45975156A>G , CM000663.1:g.45975156A>G | GRCh37 |
| NC_000001.9:g.45747743A>G | NCBI36 |
| NG_013378.1:g.14301A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.*269A>G MANE Select | ENSP00000383840.4:n.*269A>G | |
| ENST00000401061.8:c.*269A>G | ENSP00000383840.4:n.*269A>G | |
| ENST00000477188.1:n.52A>G | ||
| ENST00000616135.1:c.*132+137A>G | ENSP00000478859.1:n.*132+137A>G | |
| NM_015506.2:c.*269A>G | NP_056321.2:n.*269A>G | |
| NM_001330540.1:c.*269A>G | NP_001317469.1:n.*269A>G | |
| XM_005270724.5:c.*269A>G | XP_005270781.1:n.*269A>G | |
| NM_015506.3:c.*269A>G MANE Select | NP_056321.2:n.*269A>G | |
| NM_001330540.2:c.*269A>G | NP_001317469.1:n.*269A>G |