Linked Data
gnomAD v4:
1-40784056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784056C>T , CM000663.2:g.40784056C>T | GRCh38 |
| NC_000001.10:g.41249728C>T , CM000663.1:g.41249728C>T | GRCh37 |
| NC_000001.9:g.41022315C>T | NCBI36 |
| NG_008139.1:g.5045C>T | |
| NG_008139.2:g.5045C>T | |
| NG_008139.3:g.5270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-38C>T MANE Select | ENSP00000262916.6:n.-38C>T | |
| ENST00000347132.9:c.-38C>T | ENSP00000262916.6:n.-38C>T | |
| NM_004700.3:c.-38C>T | NP_004691.2:n.-38C>T | |
| NM_172163.2:c.-38C>T | NP_751895.1:n.-38C>T | |
| NM_004700.4:c.-38C>T MANE Select | NP_004691.2:n.-38C>T | |
| NM_172163.3:c.-38C>T | NP_751895.1:n.-38C>T |