Linked Data
gnomAD v4:
12-5045697-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045697C>G , CM000674.2:g.5045697C>G | GRCh38 |
| NC_000012.11:g.5154863C>G , CM000674.1:g.5154863C>G | GRCh37 |
| NC_000012.10:g.5025124C>G | NCBI36 |
| NG_012198.1:g.6779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1550C>G MANE Select | ENSP00000252321.3:p.Ser517Cys | |
| ENST00000252321.4:c.1550C>G | ENSP00000252321.3:p.Ser517Cys | |
| NM_002234.3:c.1550C>G | NP_002225.2:p.Ser517Cys | |
| NM_002234.4:c.1550C>G MANE Select | NP_002225.2:p.Ser517Cys |