Linked Data
dbSNP Id:
rs1296299460
gnomAD v2:
1-45965975-C-G
gnomAD v3:
1-45500303-C-G
gnomAD v4:
1-45500303-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500303C>G , CM000663.2:g.45500303C>G | GRCh38 |
| NC_000001.10:g.45965975C>G , CM000663.1:g.45965975C>G | GRCh37 |
| NC_000001.9:g.45738562C>G | NCBI36 |
| NG_013378.1:g.5120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-30C>G MANE Select | ENSP00000383840.4:n.-30C>G | |
| ENST00000401061.8:c.-30C>G | ENSP00000383840.4:n.-30C>G | |
| NM_015506.2:c.-30C>G | NP_056321.2:n.-30C>G | |
| NM_001330540.1:c.-252C>G | NP_001317469.1:n.-252C>G | |
| XM_005270724.5:c.-30C>G | XP_005270781.1:n.-30C>G | |
| NM_015506.3:c.-30C>G MANE Select | NP_056321.2:n.-30C>G | |
| NM_001330540.2:c.-252C>G | NP_001317469.1:n.-252C>G |