Linked Data
dbSNP Id:
rs1979905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78550032A>T , CM000677.2:g.78550032A>T | GRCh38 |
| NC_000015.9:g.78842374A>T , CM000677.1:g.78842374A>T | GRCh37 |
| NC_000015.8:g.76629429A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000044462.12:c.*1088A>T MANE Select | ENSP00000044462.7:n.*1088A>T | |
| ENST00000044462.11:c.*1088A>T | ENSP00000044462.7:n.*1088A>T | |
| NM_002789.6:c.*1088A>T MANE Select | NP_002780.1:n.*1088A>T | |
| NM_001102668.3:c.*1088A>T | NP_001096138.1:n.*1088A>T | |
| NM_001330673.2:c.*1225A>T | NP_001317602.1:n.*1225A>T | |
| NM_001330675.2:c.*1088A>T | NP_001317604.1:n.*1088A>T | |
| NM_001330676.2:c.*1088A>T | NP_001317605.1:n.*1088A>T |