Linked Data
dbSNP Id:
rs546475354
gnomAD v2:
4-71896360-A-T
gnomAD v3:
4-71030643-A-T
gnomAD v4:
4-71030643-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030643A>T , CM000666.2:g.71030643A>T | GRCh38 |
| NC_000004.11:g.71896360A>T , CM000666.1:g.71896360A>T | GRCh37 |
| NC_000004.10:g.72115224A>T | NCBI36 |
| NG_023303.1:g.42096A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1265A>T MANE Select | ENSP00000286648.5:n.*1265A>T | |
| ENST00000286648.9:c.*1265A>T | ENSP00000286648.5:n.*1265A>T | |
| ENST00000503359.5:c.*1992A>T | ENSP00000426389.1:n.*1992A>T | |
| ENST00000504730.5:c.*1332A>T | ENSP00000425578.1:n.*1332A>T | |
| ENST00000504952.1:c.*1191A>T | ENSP00000421508.1:n.*1191A>T | |
| NM_000788.2:c.*1265A>T | NP_000779.1:n.*1265A>T | |
| NM_000788.3:c.*1265A>T MANE Select | NP_000779.1:n.*1265A>T |