Linked Data
gnomAD v4:
12-52433874-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433874C>A , CM000674.2:g.52433874C>A | GRCh38 |
| NC_000012.11:g.52827658C>A , CM000674.1:g.52827658C>A | GRCh37 |
| NC_000012.10:g.51113925C>A | NCBI36 |
| NG_008403.1:g.5453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.431G>T MANE Select | ENSP00000252245.5:p.Arg144Leu | |
| ENST00000252245.5:c.431G>T | ENSP00000252245.5:p.Arg144Leu | |
| NM_004693.2:c.431G>T | NP_004684.2:p.Arg144Leu | |
| NM_004693.3:c.431G>T MANE Select | NP_004684.2:p.Arg144Leu |