Linked Data
gnomAD v4:
1-40784059-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784059G>T , CM000663.2:g.40784059G>T | GRCh38 |
| NC_000001.10:g.41249731G>T , CM000663.1:g.41249731G>T | GRCh37 |
| NC_000001.9:g.41022318G>T | NCBI36 |
| NG_008139.1:g.5048G>T | |
| NG_008139.2:g.5048G>T | |
| NG_008139.3:g.5273G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-35G>T MANE Select | ENSP00000262916.6:n.-35G>T | |
| ENST00000347132.9:c.-35G>T | ENSP00000262916.6:n.-35G>T | |
| NM_004700.3:c.-35G>T | NP_004691.2:n.-35G>T | |
| NM_172163.2:c.-35G>T | NP_751895.1:n.-35G>T | |
| NM_004700.4:c.-35G>T MANE Select | NP_004691.2:n.-35G>T | |
| NM_172163.3:c.-35G>T | NP_751895.1:n.-35G>T |