Linked Data
gnomAD v4:
1-40784076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784076C>G , CM000663.2:g.40784076C>G | GRCh38 |
| NC_000001.10:g.41249748C>G , CM000663.1:g.41249748C>G | GRCh37 |
| NC_000001.9:g.41022335C>G | NCBI36 |
| NG_008139.1:g.5065C>G | |
| NG_008139.2:g.5065C>G | |
| NG_008139.3:g.5290C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-18C>G MANE Select | ENSP00000262916.6:n.-18C>G | |
| ENST00000347132.9:c.-18C>G | ENSP00000262916.6:n.-18C>G | |
| NM_004700.3:c.-18C>G | NP_004691.2:n.-18C>G | |
| NM_172163.2:c.-18C>G | NP_751895.1:n.-18C>G | |
| NM_004700.4:c.-18C>G MANE Select | NP_004691.2:n.-18C>G | |
| NM_172163.3:c.-18C>G | NP_751895.1:n.-18C>G |