Linked Data
dbSNP Id:
rs756093824
ExAC:
1:109807162 C / T
gnomAD v2:
1-109807162-C-T
gnomAD v4:
1-109264540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264540C>T , CM000663.2:g.109264540C>T | GRCh38 |
| NC_000001.10:g.109807162C>T , CM000663.1:g.109807162C>T | GRCh37 |
| NC_000001.9:g.109608685C>T | NCBI36 |
| NG_052669.1:g.19836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5376C>T MANE Select | ENSP00000271332.3:p.Ser1792= | |
| ENST00000271332.3:c.5376C>T | ENSP00000271332.3:p.Ser1792= | |
| NM_001408.2:c.5376C>T | NP_001399.1:p.Ser1792= | |
| XM_005270580.3:c.5376C>T | XP_005270637.1:p.Ser1792= | |
| NM_001408.3:c.5376C>T MANE Select | NP_001399.1:p.Ser1792= |