Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388285G>T , CM000665.2:g.190388285G>T | GRCh38 |
| NC_000003.11:g.190106074G>T , CM000665.1:g.190106074G>T | GRCh37 |
| NC_000003.10:g.191588768G>T | NCBI36 |
| NG_008149.1:g.5234G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.-45G>T MANE Select | ENSP00000264734.3:n.-45G>T | |
| ENST00000456423.2:c.-45G>T | ENSP00000414136.2:n.-45G>T | |
| ENST00000264734.2:c.166G>T | ENSP00000264734.2:p.Ala56Ser | |
| ENST00000456423.1:c.166G>T | ENSP00000414136.1:p.Ala56Ser | |
| ENST00000468220.1:n.306+13682G>T | ||
| NM_006580.3:c.166G>T | NP_006571.1:p.Ala56Ser | |
| NM_001378492.1:c.-45G>T | NP_001365421.1:n.-45G>T | |
| NM_001378493.1:c.-45G>T | NP_001365422.1:n.-45G>T | |
| NM_006580.4:c.-45G>T MANE Select | NP_006571.2:n.-45G>T |