Linked Data
gnomAD v4:
5-1213604-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213604C>G , CM000667.2:g.1213604C>G | GRCh38 |
| NC_000005.9:g.1213719C>G , CM000667.1:g.1213719C>G | GRCh37 |
| NC_000005.8:g.1266719C>G | NCBI36 |
| NG_008282.1:g.17010C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+31C>G MANE Select | ENSP00000305302.10:n.774+31C>G | |
| ENST00000304460.10:c.774+31C>G | ENSP00000305302.10:n.774+31C>G | |
| ENST00000515652.5:c.682+31C>G | ENSP00000425701.1:n.682+31C>G | |
| NM_001003841.2:c.774+31C>G | NP_001003841.1:n.774+31C>G | |
| NM_001003841.3:c.774+31C>G MANE Select | NP_001003841.1:n.774+31C>G |