Linked Data
gnomAD v4:
12-52488464-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488464G>C , CM000674.2:g.52488464G>C | GRCh38 |
| NC_000012.11:g.52882248G>C , CM000674.1:g.52882248G>C | GRCh37 |
| NC_000012.10:g.51168515G>C | NCBI36 |
| NG_008298.1:g.9934C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1288C>G MANE Select | ENSP00000369317.3:p.Leu430Val | |
| ENST00000330722.6:c.1288C>G | ENSP00000369317.3:p.Leu430Val | |
| NM_005554.3:c.1288C>G | NP_005545.1:p.Leu430Val | |
| NM_005554.4:c.1288C>G MANE Select | NP_005545.1:p.Leu430Val |