Linked Data
gnomAD v4:
4-71030541-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030541G>T , CM000666.2:g.71030541G>T | GRCh38 |
| NC_000004.11:g.71896258G>T , CM000666.1:g.71896258G>T | GRCh37 |
| NC_000004.10:g.72115122G>T | NCBI36 |
| NG_023303.1:g.41994G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1163G>T MANE Select | ENSP00000286648.5:n.*1163G>T | |
| ENST00000286648.9:c.*1163G>T | ENSP00000286648.5:n.*1163G>T | |
| ENST00000503359.5:c.*1890G>T | ENSP00000426389.1:n.*1890G>T | |
| ENST00000504730.5:c.*1230G>T | ENSP00000425578.1:n.*1230G>T | |
| ENST00000504952.1:c.*1089G>T | ENSP00000421508.1:n.*1089G>T | |
| NM_000788.2:c.*1163G>T | NP_000779.1:n.*1163G>T | |
| NM_000788.3:c.*1163G>T MANE Select | NP_000779.1:n.*1163G>T |