Linked Data
dbSNP Id:
rs752013197
ExAC:
1:68895432 C / T
gnomAD v2:
1-68895432-C-T
gnomAD v3:
1-68429749-C-T
gnomAD v4:
1-68429749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429749C>T , CM000663.2:g.68429749C>T | GRCh38 |
| NC_000001.10:g.68895432C>T , CM000663.1:g.68895432C>T | GRCh37 |
| NC_000001.9:g.68668020C>T | NCBI36 |
| NG_008472.1:g.25211G>A | |
| NG_008472.2:g.25211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*27G>A MANE Select | ENSP00000262340.5:n.*27G>A | |
| ENST00000262340.5:c.*27G>A | ENSP00000262340.5:n.*27G>A | |
| NM_000329.2:c.*27G>A | NP_000320.1:n.*27G>A | |
| XM_017002027.1:c.*27G>A | XP_016857516.1:n.*27G>A | |
| NM_000329.3:c.*27G>A MANE Select | NP_000320.1:n.*27G>A |