Linked Data
gnomAD v4:
12-52519028-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519028G>C , CM000674.2:g.52519028G>C | GRCh38 |
| NC_000012.11:g.52912812G>C , CM000674.1:g.52912812G>C | GRCh37 |
| NC_000012.10:g.51199079G>C | NCBI36 |
| NG_008297.1:g.6432C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.688C>G MANE Select | ENSP00000252242.4:p.Leu230Val | |
| ENST00000252242.8:c.688C>G | ENSP00000252242.4:p.Leu230Val | |
| ENST00000549420.1:c.358C>G | ENSP00000447209.1:p.Leu120Val | |
| ENST00000551013.1:n.216C>G | ||
| ENST00000551188.5:c.90C>G | ||
| ENST00000552629.5:n.786C>G | ||
| NM_000424.3:c.688C>G | NP_000415.2:p.Leu230Val | |
| NM_000424.4:c.688C>G MANE Select | NP_000415.2:p.Leu230Val |