Linked Data
dbSNP Id:
rs576232354
ExAC:
1:45965955 A / G
gnomAD v2:
1-45965955-A-G
gnomAD v4:
1-45500283-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500283A>G , CM000663.2:g.45500283A>G | GRCh38 |
| NC_000001.10:g.45965955A>G , CM000663.1:g.45965955A>G | GRCh37 |
| NC_000001.9:g.45738542A>G | NCBI36 |
| NG_013378.1:g.5100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.8:c.-50A>G | ENSP00000383840.4:n.-50A>G | |
| NM_015506.2:c.-50A>G | NP_056321.2:n.-50A>G | |
| NM_001330540.1:c.-272A>G | NP_001317469.1:n.-272A>G | |
| XM_005270724.5:c.-50A>G | XP_005270781.1:n.-50A>G |